Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize

The association between Alport’s syndrome (AS) and focal segmental glomerulosclerosis (FSGS) in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable phy...

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Main Authors: Afnan A Alsahli, Sara I Alshahwan, Amal O Alotaibi, Khaled O Alsaad, Nourah Aloudah, Mahfooz Farooqui, Abdullah A Al Sayyari
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2018-01-01
Series:Saudi Journal of Kidney Diseases and Transplantation
Online Access:http://www.sjkdt.org/article.asp?issn=1319-2442;year=2018;volume=29;issue=1;spage=167;epage=172;aulast=Alsahli
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spelling doaj-f91756357ec74aee9f185268820394182020-11-25T00:22:40ZengWolters Kluwer Medknow PublicationsSaudi Journal of Kidney Diseases and Transplantation1319-24422018-01-0129116717210.4103/1319-2442.225193Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognizeAfnan A AlsahliSara I AlshahwanAmal O AlotaibiKhaled O AlsaadNourah AloudahMahfooz FarooquiAbdullah A Al SayyariThe association between Alport’s syndrome (AS) and focal segmental glomerulosclerosis (FSGS) in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable physical examination apart from obesity. The renal biopsy showed well-established FSGS pattern of injury with mild interstitial fibrosis and tubular atrophy, while the electron microscopic examination demonstrated glomerular basement membranes (GBM) changes compatible with AS. AS can be complicated by segmental glomerular scarring, which can mimic primary FSGS, while familial FSGS can result from mutations in collagen IV network of the GBM. This overlap can complicate histopathological interpretation of renal biopsy, which should be accompanied by mutational analysis for accurate diagnosis and proper therapeutic intervention.http://www.sjkdt.org/article.asp?issn=1319-2442;year=2018;volume=29;issue=1;spage=167;epage=172;aulast=Alsahli
collection DOAJ
language English
format Article
sources DOAJ
author Afnan A Alsahli
Sara I Alshahwan
Amal O Alotaibi
Khaled O Alsaad
Nourah Aloudah
Mahfooz Farooqui
Abdullah A Al Sayyari
spellingShingle Afnan A Alsahli
Sara I Alshahwan
Amal O Alotaibi
Khaled O Alsaad
Nourah Aloudah
Mahfooz Farooqui
Abdullah A Al Sayyari
Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize
Saudi Journal of Kidney Diseases and Transplantation
author_facet Afnan A Alsahli
Sara I Alshahwan
Amal O Alotaibi
Khaled O Alsaad
Nourah Aloudah
Mahfooz Farooqui
Abdullah A Al Sayyari
author_sort Afnan A Alsahli
title Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize
title_short Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize
title_full Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize
title_fullStr Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize
title_full_unstemmed Alport’s syndrome with focal segmental glomerulosclerosis lesion – Pattern to recognize
title_sort alport’s syndrome with focal segmental glomerulosclerosis lesion – pattern to recognize
publisher Wolters Kluwer Medknow Publications
series Saudi Journal of Kidney Diseases and Transplantation
issn 1319-2442
publishDate 2018-01-01
description The association between Alport’s syndrome (AS) and focal segmental glomerulosclerosis (FSGS) in the same patient is complex and rarely reported. We report a case of a 42-year-old male presenting with proteinuria, microscopic hematuria, elevated serum creatinine and hypertension with unremarkable physical examination apart from obesity. The renal biopsy showed well-established FSGS pattern of injury with mild interstitial fibrosis and tubular atrophy, while the electron microscopic examination demonstrated glomerular basement membranes (GBM) changes compatible with AS. AS can be complicated by segmental glomerular scarring, which can mimic primary FSGS, while familial FSGS can result from mutations in collagen IV network of the GBM. This overlap can complicate histopathological interpretation of renal biopsy, which should be accompanied by mutational analysis for accurate diagnosis and proper therapeutic intervention.
url http://www.sjkdt.org/article.asp?issn=1319-2442;year=2018;volume=29;issue=1;spage=167;epage=172;aulast=Alsahli
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