A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability
Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between pheno...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Yılmaz, Esra Karabağ [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2022 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 |
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| Übergeordnetes Werk: |
Enthalten in: Pediatric nephrology - Berlin : Springer, 1987, 37(2022), 8 vom: 16. Jan., Seite 1855-1866 |
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| Übergeordnetes Werk: |
volume:37 ; year:2022 ; number:8 ; day:16 ; month:01 ; pages:1855-1866 |
| Links: |
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| DOI / URN: |
10.1007/s00467-021-05371-7 |
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SPR04743340X |
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| 100 | 1 | |a Yılmaz, Esra Karabağ |e verfasserin |0 (orcid)0000-0002-6097-657X |4 aut | |
| 245 | 1 | 2 | |a A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability |
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| 500 | |a © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 | ||
| 520 | |a Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. | ||
| 650 | 4 | |a Children |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Diffuse mesangial sclerosis |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Focal segmental glomerulosclerosis |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Intrafamilial variability |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Prognosis |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Treatment |7 (dpeaa)DE-He213 | |
| 700 | 1 | |a Saygili, Seha |0 (orcid)0000-0002-2424-6959 |4 aut | |
| 700 | 1 | |a Gulhan, Bora |0 (orcid)0000-0003-0236-5786 |4 aut | |
| 700 | 1 | |a Canpolat, Nur |0 (orcid)0000-0002-3420-9756 |4 aut | |
| 700 | 1 | |a Bayazıt, Aysun Karabay |0 (orcid)0000-0002-2644-5628 |4 aut | |
| 700 | 1 | |a Kilic, Beltinge Demircioglu |0 (orcid)0000-0001-9408-2139 |4 aut | |
| 700 | 1 | |a Akıncı, Nurver |0 (orcid)0000-0002-8355-4214 |4 aut | |
| 700 | 1 | |a Benzer, Meryem |0 (orcid)0000-0002-8647-4519 |4 aut | |
| 700 | 1 | |a Goknar, Nilufer |0 (orcid)0000-0003-4376-1216 |4 aut | |
| 700 | 1 | |a Tufan, Asli Kavaz |0 (orcid)0000-0003-1311-9468 |4 aut | |
| 700 | 1 | |a Kalyoncu, Mukaddes |0 (orcid)0000-0001-5378-939X |4 aut | |
| 700 | 1 | |a Nalcacioglu, Hulya |0 (orcid)0000-0002-0686-9714 |4 aut | |
| 700 | 1 | |a Tekcan, Demet |0 (orcid)0000-0001-7013-1354 |4 aut | |
| 700 | 1 | |a Yıldız, Gizem |0 (orcid)0000-0001-9513-6661 |4 aut | |
| 700 | 1 | |a Agbas, Ayse |0 (orcid)0000-0002-3658-8622 |4 aut | |
| 700 | 1 | |a Nayır, Ahmet |0 (orcid)0000-0002-3357-9237 |4 aut | |
| 700 | 1 | |a Topaloglu, Rezan |0 (orcid)0000-0002-6423-0927 |4 aut | |
| 700 | 1 | |a Caliskan, Salim |0 (orcid)0000-0002-3316-8032 |4 aut | |
| 700 | 1 | |a Ozaltin, Fatih |0 (orcid)0000-0003-1194-0164 |4 aut | |
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10.1007/s00467-021-05371-7 doi (DE-627)SPR04743340X (SPR)s00467-021-05371-7-e DE-627 ger DE-627 rakwb eng Yılmaz, Esra Karabağ verfasserin (orcid)0000-0002-6097-657X aut A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. Children (dpeaa)DE-He213 Diffuse mesangial sclerosis (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Intrafamilial variability (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Treatment (dpeaa)DE-He213 Saygili, Seha (orcid)0000-0002-2424-6959 aut Gulhan, Bora (orcid)0000-0003-0236-5786 aut Canpolat, Nur (orcid)0000-0002-3420-9756 aut Bayazıt, Aysun Karabay (orcid)0000-0002-2644-5628 aut Kilic, Beltinge Demircioglu (orcid)0000-0001-9408-2139 aut Akıncı, Nurver (orcid)0000-0002-8355-4214 aut Benzer, Meryem (orcid)0000-0002-8647-4519 aut Goknar, Nilufer (orcid)0000-0003-4376-1216 aut Tufan, Asli Kavaz (orcid)0000-0003-1311-9468 aut Kalyoncu, Mukaddes (orcid)0000-0001-5378-939X aut Nalcacioglu, Hulya (orcid)0000-0002-0686-9714 aut Tekcan, Demet (orcid)0000-0001-7013-1354 aut Yıldız, Gizem (orcid)0000-0001-9513-6661 aut Agbas, Ayse (orcid)0000-0002-3658-8622 aut Nayır, Ahmet (orcid)0000-0002-3357-9237 aut Topaloglu, Rezan (orcid)0000-0002-6423-0927 aut Caliskan, Salim (orcid)0000-0002-3316-8032 aut Ozaltin, Fatih (orcid)0000-0003-1194-0164 aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 37(2022), 8 vom: 16. Jan., Seite 1855-1866 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:37 year:2022 number:8 day:16 month:01 pages:1855-1866 https://dx.doi.org/10.1007/s00467-021-05371-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 37 2022 8 16 01 1855-1866 |
| spelling |
10.1007/s00467-021-05371-7 doi (DE-627)SPR04743340X (SPR)s00467-021-05371-7-e DE-627 ger DE-627 rakwb eng Yılmaz, Esra Karabağ verfasserin (orcid)0000-0002-6097-657X aut A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. Children (dpeaa)DE-He213 Diffuse mesangial sclerosis (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Intrafamilial variability (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Treatment (dpeaa)DE-He213 Saygili, Seha (orcid)0000-0002-2424-6959 aut Gulhan, Bora (orcid)0000-0003-0236-5786 aut Canpolat, Nur (orcid)0000-0002-3420-9756 aut Bayazıt, Aysun Karabay (orcid)0000-0002-2644-5628 aut Kilic, Beltinge Demircioglu (orcid)0000-0001-9408-2139 aut Akıncı, Nurver (orcid)0000-0002-8355-4214 aut Benzer, Meryem (orcid)0000-0002-8647-4519 aut Goknar, Nilufer (orcid)0000-0003-4376-1216 aut Tufan, Asli Kavaz (orcid)0000-0003-1311-9468 aut Kalyoncu, Mukaddes (orcid)0000-0001-5378-939X aut Nalcacioglu, Hulya (orcid)0000-0002-0686-9714 aut Tekcan, Demet (orcid)0000-0001-7013-1354 aut Yıldız, Gizem (orcid)0000-0001-9513-6661 aut Agbas, Ayse (orcid)0000-0002-3658-8622 aut Nayır, Ahmet (orcid)0000-0002-3357-9237 aut Topaloglu, Rezan (orcid)0000-0002-6423-0927 aut Caliskan, Salim (orcid)0000-0002-3316-8032 aut Ozaltin, Fatih (orcid)0000-0003-1194-0164 aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 37(2022), 8 vom: 16. Jan., Seite 1855-1866 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:37 year:2022 number:8 day:16 month:01 pages:1855-1866 https://dx.doi.org/10.1007/s00467-021-05371-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 37 2022 8 16 01 1855-1866 |
| allfields_unstemmed |
10.1007/s00467-021-05371-7 doi (DE-627)SPR04743340X (SPR)s00467-021-05371-7-e DE-627 ger DE-627 rakwb eng Yılmaz, Esra Karabağ verfasserin (orcid)0000-0002-6097-657X aut A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. Children (dpeaa)DE-He213 Diffuse mesangial sclerosis (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Intrafamilial variability (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Treatment (dpeaa)DE-He213 Saygili, Seha (orcid)0000-0002-2424-6959 aut Gulhan, Bora (orcid)0000-0003-0236-5786 aut Canpolat, Nur (orcid)0000-0002-3420-9756 aut Bayazıt, Aysun Karabay (orcid)0000-0002-2644-5628 aut Kilic, Beltinge Demircioglu (orcid)0000-0001-9408-2139 aut Akıncı, Nurver (orcid)0000-0002-8355-4214 aut Benzer, Meryem (orcid)0000-0002-8647-4519 aut Goknar, Nilufer (orcid)0000-0003-4376-1216 aut Tufan, Asli Kavaz (orcid)0000-0003-1311-9468 aut Kalyoncu, Mukaddes (orcid)0000-0001-5378-939X aut Nalcacioglu, Hulya (orcid)0000-0002-0686-9714 aut Tekcan, Demet (orcid)0000-0001-7013-1354 aut Yıldız, Gizem (orcid)0000-0001-9513-6661 aut Agbas, Ayse (orcid)0000-0002-3658-8622 aut Nayır, Ahmet (orcid)0000-0002-3357-9237 aut Topaloglu, Rezan (orcid)0000-0002-6423-0927 aut Caliskan, Salim (orcid)0000-0002-3316-8032 aut Ozaltin, Fatih (orcid)0000-0003-1194-0164 aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 37(2022), 8 vom: 16. Jan., Seite 1855-1866 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:37 year:2022 number:8 day:16 month:01 pages:1855-1866 https://dx.doi.org/10.1007/s00467-021-05371-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 37 2022 8 16 01 1855-1866 |
| allfieldsGer |
10.1007/s00467-021-05371-7 doi (DE-627)SPR04743340X (SPR)s00467-021-05371-7-e DE-627 ger DE-627 rakwb eng Yılmaz, Esra Karabağ verfasserin (orcid)0000-0002-6097-657X aut A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. Children (dpeaa)DE-He213 Diffuse mesangial sclerosis (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Intrafamilial variability (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Treatment (dpeaa)DE-He213 Saygili, Seha (orcid)0000-0002-2424-6959 aut Gulhan, Bora (orcid)0000-0003-0236-5786 aut Canpolat, Nur (orcid)0000-0002-3420-9756 aut Bayazıt, Aysun Karabay (orcid)0000-0002-2644-5628 aut Kilic, Beltinge Demircioglu (orcid)0000-0001-9408-2139 aut Akıncı, Nurver (orcid)0000-0002-8355-4214 aut Benzer, Meryem (orcid)0000-0002-8647-4519 aut Goknar, Nilufer (orcid)0000-0003-4376-1216 aut Tufan, Asli Kavaz (orcid)0000-0003-1311-9468 aut Kalyoncu, Mukaddes (orcid)0000-0001-5378-939X aut Nalcacioglu, Hulya (orcid)0000-0002-0686-9714 aut Tekcan, Demet (orcid)0000-0001-7013-1354 aut Yıldız, Gizem (orcid)0000-0001-9513-6661 aut Agbas, Ayse (orcid)0000-0002-3658-8622 aut Nayır, Ahmet (orcid)0000-0002-3357-9237 aut Topaloglu, Rezan (orcid)0000-0002-6423-0927 aut Caliskan, Salim (orcid)0000-0002-3316-8032 aut Ozaltin, Fatih (orcid)0000-0003-1194-0164 aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 37(2022), 8 vom: 16. Jan., Seite 1855-1866 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:37 year:2022 number:8 day:16 month:01 pages:1855-1866 https://dx.doi.org/10.1007/s00467-021-05371-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 37 2022 8 16 01 1855-1866 |
| allfieldsSound |
10.1007/s00467-021-05371-7 doi (DE-627)SPR04743340X (SPR)s00467-021-05371-7-e DE-627 ger DE-627 rakwb eng Yılmaz, Esra Karabağ verfasserin (orcid)0000-0002-6097-657X aut A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. Children (dpeaa)DE-He213 Diffuse mesangial sclerosis (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Intrafamilial variability (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Treatment (dpeaa)DE-He213 Saygili, Seha (orcid)0000-0002-2424-6959 aut Gulhan, Bora (orcid)0000-0003-0236-5786 aut Canpolat, Nur (orcid)0000-0002-3420-9756 aut Bayazıt, Aysun Karabay (orcid)0000-0002-2644-5628 aut Kilic, Beltinge Demircioglu (orcid)0000-0001-9408-2139 aut Akıncı, Nurver (orcid)0000-0002-8355-4214 aut Benzer, Meryem (orcid)0000-0002-8647-4519 aut Goknar, Nilufer (orcid)0000-0003-4376-1216 aut Tufan, Asli Kavaz (orcid)0000-0003-1311-9468 aut Kalyoncu, Mukaddes (orcid)0000-0001-5378-939X aut Nalcacioglu, Hulya (orcid)0000-0002-0686-9714 aut Tekcan, Demet (orcid)0000-0001-7013-1354 aut Yıldız, Gizem (orcid)0000-0001-9513-6661 aut Agbas, Ayse (orcid)0000-0002-3658-8622 aut Nayır, Ahmet (orcid)0000-0002-3357-9237 aut Topaloglu, Rezan (orcid)0000-0002-6423-0927 aut Caliskan, Salim (orcid)0000-0002-3316-8032 aut Ozaltin, Fatih (orcid)0000-0003-1194-0164 aut Enthalten in Pediatric nephrology Berlin : Springer, 1987 37(2022), 8 vom: 16. Jan., Seite 1855-1866 (DE-627)254638872 (DE-600)1463004-7 1432-198X nnns volume:37 year:2022 number:8 day:16 month:01 pages:1855-1866 https://dx.doi.org/10.1007/s00467-021-05371-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 AR 37 2022 8 16 01 1855-1866 |
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English |
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Enthalten in Pediatric nephrology 37(2022), 8 vom: 16. Jan., Seite 1855-1866 volume:37 year:2022 number:8 day:16 month:01 pages:1855-1866 |
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Enthalten in Pediatric nephrology 37(2022), 8 vom: 16. Jan., Seite 1855-1866 volume:37 year:2022 number:8 day:16 month:01 pages:1855-1866 |
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Children Diffuse mesangial sclerosis Focal segmental glomerulosclerosis Intrafamilial variability Prognosis Treatment |
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Pediatric nephrology |
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Yılmaz, Esra Karabağ @@aut@@ Saygili, Seha @@aut@@ Gulhan, Bora @@aut@@ Canpolat, Nur @@aut@@ Bayazıt, Aysun Karabay @@aut@@ Kilic, Beltinge Demircioglu @@aut@@ Akıncı, Nurver @@aut@@ Benzer, Meryem @@aut@@ Goknar, Nilufer @@aut@@ Tufan, Asli Kavaz @@aut@@ Kalyoncu, Mukaddes @@aut@@ Nalcacioglu, Hulya @@aut@@ Tekcan, Demet @@aut@@ Yıldız, Gizem @@aut@@ Agbas, Ayse @@aut@@ Nayır, Ahmet @@aut@@ Topaloglu, Rezan @@aut@@ Caliskan, Salim @@aut@@ Ozaltin, Fatih @@aut@@ |
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2022-01-16T00:00:00Z |
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254638872 |
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SPR04743340X |
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englisch |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR04743340X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519172712.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">220629s2022 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s00467-021-05371-7</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR04743340X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s00467-021-05371-7-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Yılmaz, Esra Karabağ</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0002-6097-657X</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="2"><subfield code="a">A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. 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Yılmaz, Esra Karabağ |
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Yılmaz, Esra Karabağ misc Children misc Diffuse mesangial sclerosis misc Focal segmental glomerulosclerosis misc Intrafamilial variability misc Prognosis misc Treatment A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability |
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A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability Children (dpeaa)DE-He213 Diffuse mesangial sclerosis (dpeaa)DE-He213 Focal segmental glomerulosclerosis (dpeaa)DE-He213 Intrafamilial variability (dpeaa)DE-He213 Prognosis (dpeaa)DE-He213 Treatment (dpeaa)DE-He213 |
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A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability |
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A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability |
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Yılmaz, Esra Karabağ Saygili, Seha Gulhan, Bora Canpolat, Nur Bayazıt, Aysun Karabay Kilic, Beltinge Demircioglu Akıncı, Nurver Benzer, Meryem Goknar, Nilufer Tufan, Asli Kavaz Kalyoncu, Mukaddes Nalcacioglu, Hulya Tekcan, Demet Yıldız, Gizem Agbas, Ayse Nayır, Ahmet Topaloglu, Rezan Caliskan, Salim Ozaltin, Fatih |
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broad clinical spectrum of plcε1-related kidney disease and intrafamilial variability |
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A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability |
| abstract |
Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 |
| abstractGer |
Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 |
| abstract_unstemmed |
Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. Graphical abstract “A higher resolution version of the Graphical abstract is available as Supplementary information”. © The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021 |
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A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR04743340X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519172712.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">220629s2022 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1007/s00467-021-05371-7</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR04743340X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s00467-021-05371-7-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Yılmaz, Esra Karabağ</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0002-6097-657X</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="2"><subfield code="a">A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s), under exclusive licence to International Pediatric Nephrology Association 2021</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. Methods Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. Results Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype–phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. Conclusion PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. 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