Renal manifestations of severe Rabson-Mendenhall syndrome: a case report
Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African fe...
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| Autor*in: |
Chong, Yih Harng [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2013 |
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| Schlagwörter: |
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| Anmerkung: |
© Chong et al.; licensee BioMed Central Ltd. 2013 |
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| Übergeordnetes Werk: |
Enthalten in: Journal of diabetes & metabolic disorders - London : BioMed Centra, 2012, 12(2013), 1 vom: 22. Jan. |
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volume:12 ; year:2013 ; number:1 ; day:22 ; month:01 |
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10.1186/2251-6581-12-7 |
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| 520 | |a Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. | ||
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| 700 | 1 | |a Wheeler, Benjamin J |4 aut | |
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10.1186/2251-6581-12-7 doi (DE-627)SPR033824789 (SPR)2251-6581-12-7-e DE-627 ger DE-627 rakwb eng Chong, Yih Harng verfasserin aut Renal manifestations of severe Rabson-Mendenhall syndrome: a case report 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Chong et al.; licensee BioMed Central Ltd. 2013 Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. Rabson-Mendenhall syndrome (dpeaa)DE-He213 Insulin resistance (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 Nephrocalcinosis (dpeaa)DE-He213 Hydronephrosis (dpeaa)DE-He213 Nephromegaly (dpeaa)DE-He213 Taylor, Barry J aut Wheeler, Benjamin J aut Enthalten in Journal of diabetes & metabolic disorders London : BioMed Centra, 2012 12(2013), 1 vom: 22. Jan. (DE-627)723900051 (DE-600)2680289-2 2251-6581 nnns volume:12 year:2013 number:1 day:22 month:01 https://dx.doi.org/10.1186/2251-6581-12-7 kostenfrei 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_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 12 2013 1 22 01 |
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10.1186/2251-6581-12-7 doi (DE-627)SPR033824789 (SPR)2251-6581-12-7-e DE-627 ger DE-627 rakwb eng Chong, Yih Harng verfasserin aut Renal manifestations of severe Rabson-Mendenhall syndrome: a case report 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Chong et al.; licensee BioMed Central Ltd. 2013 Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. Rabson-Mendenhall syndrome (dpeaa)DE-He213 Insulin resistance (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 Nephrocalcinosis (dpeaa)DE-He213 Hydronephrosis (dpeaa)DE-He213 Nephromegaly (dpeaa)DE-He213 Taylor, Barry J aut Wheeler, Benjamin J aut Enthalten in Journal of diabetes & metabolic disorders London : BioMed Centra, 2012 12(2013), 1 vom: 22. Jan. (DE-627)723900051 (DE-600)2680289-2 2251-6581 nnns volume:12 year:2013 number:1 day:22 month:01 https://dx.doi.org/10.1186/2251-6581-12-7 kostenfrei 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_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 12 2013 1 22 01 |
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10.1186/2251-6581-12-7 doi (DE-627)SPR033824789 (SPR)2251-6581-12-7-e DE-627 ger DE-627 rakwb eng Chong, Yih Harng verfasserin aut Renal manifestations of severe Rabson-Mendenhall syndrome: a case report 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Chong et al.; licensee BioMed Central Ltd. 2013 Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. Rabson-Mendenhall syndrome (dpeaa)DE-He213 Insulin resistance (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 Nephrocalcinosis (dpeaa)DE-He213 Hydronephrosis (dpeaa)DE-He213 Nephromegaly (dpeaa)DE-He213 Taylor, Barry J aut Wheeler, Benjamin J aut Enthalten in Journal of diabetes & metabolic disorders London : BioMed Centra, 2012 12(2013), 1 vom: 22. Jan. (DE-627)723900051 (DE-600)2680289-2 2251-6581 nnns volume:12 year:2013 number:1 day:22 month:01 https://dx.doi.org/10.1186/2251-6581-12-7 kostenfrei 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_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 12 2013 1 22 01 |
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10.1186/2251-6581-12-7 doi (DE-627)SPR033824789 (SPR)2251-6581-12-7-e DE-627 ger DE-627 rakwb eng Chong, Yih Harng verfasserin aut Renal manifestations of severe Rabson-Mendenhall syndrome: a case report 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Chong et al.; licensee BioMed Central Ltd. 2013 Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. Rabson-Mendenhall syndrome (dpeaa)DE-He213 Insulin resistance (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 Nephrocalcinosis (dpeaa)DE-He213 Hydronephrosis (dpeaa)DE-He213 Nephromegaly (dpeaa)DE-He213 Taylor, Barry J aut Wheeler, Benjamin J aut Enthalten in Journal of diabetes & metabolic disorders London : BioMed Centra, 2012 12(2013), 1 vom: 22. Jan. (DE-627)723900051 (DE-600)2680289-2 2251-6581 nnns volume:12 year:2013 number:1 day:22 month:01 https://dx.doi.org/10.1186/2251-6581-12-7 kostenfrei 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_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 12 2013 1 22 01 |
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10.1186/2251-6581-12-7 doi (DE-627)SPR033824789 (SPR)2251-6581-12-7-e DE-627 ger DE-627 rakwb eng Chong, Yih Harng verfasserin aut Renal manifestations of severe Rabson-Mendenhall syndrome: a case report 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Chong et al.; licensee BioMed Central Ltd. 2013 Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. Rabson-Mendenhall syndrome (dpeaa)DE-He213 Insulin resistance (dpeaa)DE-He213 Medullary sponge kidney (dpeaa)DE-He213 Nephrocalcinosis (dpeaa)DE-He213 Hydronephrosis (dpeaa)DE-He213 Nephromegaly (dpeaa)DE-He213 Taylor, Barry J aut Wheeler, Benjamin J aut Enthalten in Journal of diabetes & metabolic disorders London : BioMed Centra, 2012 12(2013), 1 vom: 22. Jan. (DE-627)723900051 (DE-600)2680289-2 2251-6581 nnns volume:12 year:2013 number:1 day:22 month:01 https://dx.doi.org/10.1186/2251-6581-12-7 kostenfrei 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_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 12 2013 1 22 01 |
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Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. © Chong et al.; licensee BioMed Central Ltd. 2013 |
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Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. © Chong et al.; licensee BioMed Central Ltd. 2013 |
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Introduction Rabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies. Case presentation We report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney. Conclusion This is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance. © Chong et al.; licensee BioMed Central Ltd. 2013 |
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| score |
7.400546 |