A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity

We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertens...
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Autor*in:	Ivana Trutin [verfasserIn] Lea Oletić [verfasserIn] Danica Galešić Ljubanović [verfasserIn] Daniel Turudić [verfasserIn] Danko Milošević [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	Dense deposit disease C3 glomerulopathy Children Nephritic syndrome

Übergeordnetes Werk:	In: Acta Clinica Croatica - Sestre Milosrdnice University hospital, Institute of Clinical Medical Research, 2018, 60.(2021), 1., Seite 141-145
Übergeordnetes Werk:	volume:60. ; year:2021 ; number:1. ; pages:141-145

Links:	Link aufrufen Link aufrufen Journal toc Journal toc

Katalog-ID:	DOAJ003428613

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allfields	(DE-627)DOAJ003428613 (DE-599)DOAJ485fa199791c47ffbaa0f3131b45da1c DE-627 ger DE-627 rakwb eng Ivana Trutin verfasserin aut A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease. Dense deposit disease C3 glomerulopathy Children Nephritic syndrome Medicine R Lea Oletić verfasserin aut Danica Galešić Ljubanović verfasserin aut Daniel Turudić verfasserin aut Danko Milošević verfasserin aut In Acta Clinica Croatica Sestre Milosrdnice University hospital, Institute of Clinical Medical Research, 2018 60.(2021), 1., Seite 141-145 (DE-627)343513757 (DE-600)2073072-X 13339451 nnns volume:60. year:2021 number:1. pages:141-145 https://doaj.org/article/485fa199791c47ffbaa0f3131b45da1c kostenfrei https://hrcak.srce.hr/file/378136 kostenfrei https://doaj.org/toc/0353-9466 Journal toc kostenfrei https://doaj.org/toc/1333-9451 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 60. 2021 1. 141-145
spelling	(DE-627)DOAJ003428613 (DE-599)DOAJ485fa199791c47ffbaa0f3131b45da1c DE-627 ger DE-627 rakwb eng Ivana Trutin verfasserin aut A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease. Dense deposit disease C3 glomerulopathy Children Nephritic syndrome Medicine R Lea Oletić verfasserin aut Danica Galešić Ljubanović verfasserin aut Daniel Turudić verfasserin aut Danko Milošević verfasserin aut In Acta Clinica Croatica Sestre Milosrdnice University hospital, Institute of Clinical Medical Research, 2018 60.(2021), 1., Seite 141-145 (DE-627)343513757 (DE-600)2073072-X 13339451 nnns volume:60. year:2021 number:1. pages:141-145 https://doaj.org/article/485fa199791c47ffbaa0f3131b45da1c kostenfrei https://hrcak.srce.hr/file/378136 kostenfrei https://doaj.org/toc/0353-9466 Journal toc kostenfrei https://doaj.org/toc/1333-9451 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 60. 2021 1. 141-145
allfields_unstemmed	(DE-627)DOAJ003428613 (DE-599)DOAJ485fa199791c47ffbaa0f3131b45da1c DE-627 ger DE-627 rakwb eng Ivana Trutin verfasserin aut A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease. Dense deposit disease C3 glomerulopathy Children Nephritic syndrome Medicine R Lea Oletić verfasserin aut Danica Galešić Ljubanović verfasserin aut Daniel Turudić verfasserin aut Danko Milošević verfasserin aut In Acta Clinica Croatica Sestre Milosrdnice University hospital, Institute of Clinical Medical Research, 2018 60.(2021), 1., Seite 141-145 (DE-627)343513757 (DE-600)2073072-X 13339451 nnns volume:60. year:2021 number:1. pages:141-145 https://doaj.org/article/485fa199791c47ffbaa0f3131b45da1c kostenfrei https://hrcak.srce.hr/file/378136 kostenfrei https://doaj.org/toc/0353-9466 Journal toc kostenfrei https://doaj.org/toc/1333-9451 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 60. 2021 1. 141-145
allfieldsGer	(DE-627)DOAJ003428613 (DE-599)DOAJ485fa199791c47ffbaa0f3131b45da1c DE-627 ger DE-627 rakwb eng Ivana Trutin verfasserin aut A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease. Dense deposit disease C3 glomerulopathy Children Nephritic syndrome Medicine R Lea Oletić verfasserin aut Danica Galešić Ljubanović verfasserin aut Daniel Turudić verfasserin aut Danko Milošević verfasserin aut In Acta Clinica Croatica Sestre Milosrdnice University hospital, Institute of Clinical Medical Research, 2018 60.(2021), 1., Seite 141-145 (DE-627)343513757 (DE-600)2073072-X 13339451 nnns volume:60. year:2021 number:1. pages:141-145 https://doaj.org/article/485fa199791c47ffbaa0f3131b45da1c kostenfrei https://hrcak.srce.hr/file/378136 kostenfrei https://doaj.org/toc/0353-9466 Journal toc kostenfrei https://doaj.org/toc/1333-9451 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 60. 2021 1. 141-145
allfieldsSound	(DE-627)DOAJ003428613 (DE-599)DOAJ485fa199791c47ffbaa0f3131b45da1c DE-627 ger DE-627 rakwb eng Ivana Trutin verfasserin aut A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease. Dense deposit disease C3 glomerulopathy Children Nephritic syndrome Medicine R Lea Oletić verfasserin aut Danica Galešić Ljubanović verfasserin aut Daniel Turudić verfasserin aut Danko Milošević verfasserin aut In Acta Clinica Croatica Sestre Milosrdnice University hospital, Institute of Clinical Medical Research, 2018 60.(2021), 1., Seite 141-145 (DE-627)343513757 (DE-600)2073072-X 13339451 nnns volume:60. year:2021 number:1. pages:141-145 https://doaj.org/article/485fa199791c47ffbaa0f3131b45da1c kostenfrei https://hrcak.srce.hr/file/378136 kostenfrei https://doaj.org/toc/0353-9466 Journal toc kostenfrei https://doaj.org/toc/1333-9451 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 60. 2021 1. 141-145
language	English
source	In Acta Clinica Croatica 60.(2021), 1., Seite 141-145 volume:60. year:2021 number:1. pages:141-145
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topic_facet	Dense deposit disease C3 glomerulopathy Children Nephritic syndrome Medicine R
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authorswithroles_txt_mv	Ivana Trutin @@aut@@ Lea Oletić @@aut@@ Danica Galešić Ljubanović @@aut@@ Daniel Turudić @@aut@@ Danko Milošević @@aut@@
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author	Ivana Trutin
spellingShingle	Ivana Trutin misc Dense deposit disease misc C3 glomerulopathy misc Children misc Nephritic syndrome misc Medicine misc R A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity
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topic_title	A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity Dense deposit disease C3 glomerulopathy Children Nephritic syndrome
topic	misc Dense deposit disease misc C3 glomerulopathy misc Children misc Nephritic syndrome misc Medicine misc R
topic_unstemmed	misc Dense deposit disease misc C3 glomerulopathy misc Children misc Nephritic syndrome misc Medicine misc R
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title	A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity
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title_full	A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity
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title_sort	child with dense deposit disease and decreased classic complement pathway activity
title_auth	A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity
abstract	We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease.
abstractGer	We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease.
abstract_unstemmed	We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease.
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title_short	A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity
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A Child with Dense Deposit Disease and Decreased Classic Complement Pathway Activity

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