Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome

Background: The aim of this study was to report the clinical features and mutations in a patient with autosomal-inherited Alport syndrome (AS).Methods: We examined the clinical data, mutation analysis results, and family tree of a patient with autosomal-inherited AS, who had nephrotic syndrome as he...

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Autores principales: Dahai Wang, Chunrong Shan, Xinxin Jing, Qiuye Zhang, Hong Chang, Yi Lin
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Publicado: Frontiers Media S.A. 2021
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spelling oai:doaj.org-article:9365015f93d143ea87c6d54ffa9fb0082021-11-11T06:49:27ZClinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome2296-236010.3389/fped.2021.678633https://doaj.org/article/9365015f93d143ea87c6d54ffa9fb0082021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.678633/fullhttps://doaj.org/toc/2296-2360Background: The aim of this study was to report the clinical features and mutations in a patient with autosomal-inherited Alport syndrome (AS).Methods: We examined the clinical data, mutation analysis results, and family tree of a patient with autosomal-inherited AS, who had nephrotic syndrome as her first manifestation.Results: The proband was a girl of 11 months who presented with nephritic and nephrotic syndromes including gross hematuria but had a normal renal function. Her treatment course was complicated by steroid resistance and a poor response to cyclosporine A and cyclophosphamide pulse therapy. Renal biopsy was performed 2 years after disease onset; light microscopy showed glomerular segmental mesangio-proliferative lesions, and type IV collagen staining showed the loss of the α3 chain in the glomerular and tubular basement membrane (GBM and TBM) and α5 chain loss in the GBM. Electron microscopy showed uneven GBM thickness, with the dense basement membrane (BM) layer obviously delaminated and torn, showing a typical “lace-like” change. The segmental BM was loosened and widened. Her father did not develop microscopic hematuria until 10 years later, while her grandmother had asymptomatic hematuria and proteinuria when the proband was diagnosed. We detected a new COL4A4 mutation in the proband, namely c.1715delG (p.G572Vfs * 81) in exon 24. Her father and grandmother carried the same mutation, but her mother and sister did not.Conclusions: We found a new potentially pathogenic mutation of COL4A4 in a patient with autosomal-inherited AS, which presented as nephrotic syndrome in infancy.Dahai WangChunrong ShanXinxin JingQiuye ZhangHong ChangYi LinFrontiers Media S.A.articleAlport syndromeautosomal inheritanceCOL4A4nephrotic syndromeend-stage renal diseasePediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution DOAJ
collection DOAJ
language EN
topic Alport syndrome
autosomal inheritance
COL4A4
nephrotic syndrome
end-stage renal disease
Pediatrics
RJ1-570
spellingShingle Alport syndrome
autosomal inheritance
COL4A4
nephrotic syndrome
end-stage renal disease
Pediatrics
RJ1-570
Dahai Wang
Chunrong Shan
Xinxin Jing
Qiuye Zhang
Hong Chang
Yi Lin
Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
description Background: The aim of this study was to report the clinical features and mutations in a patient with autosomal-inherited Alport syndrome (AS).Methods: We examined the clinical data, mutation analysis results, and family tree of a patient with autosomal-inherited AS, who had nephrotic syndrome as her first manifestation.Results: The proband was a girl of 11 months who presented with nephritic and nephrotic syndromes including gross hematuria but had a normal renal function. Her treatment course was complicated by steroid resistance and a poor response to cyclosporine A and cyclophosphamide pulse therapy. Renal biopsy was performed 2 years after disease onset; light microscopy showed glomerular segmental mesangio-proliferative lesions, and type IV collagen staining showed the loss of the α3 chain in the glomerular and tubular basement membrane (GBM and TBM) and α5 chain loss in the GBM. Electron microscopy showed uneven GBM thickness, with the dense basement membrane (BM) layer obviously delaminated and torn, showing a typical “lace-like” change. The segmental BM was loosened and widened. Her father did not develop microscopic hematuria until 10 years later, while her grandmother had asymptomatic hematuria and proteinuria when the proband was diagnosed. We detected a new COL4A4 mutation in the proband, namely c.1715delG (p.G572Vfs * 81) in exon 24. Her father and grandmother carried the same mutation, but her mother and sister did not.Conclusions: We found a new potentially pathogenic mutation of COL4A4 in a patient with autosomal-inherited AS, which presented as nephrotic syndrome in infancy.
format article
author Dahai Wang
Chunrong Shan
Xinxin Jing
Qiuye Zhang
Hong Chang
Yi Lin
author_facet Dahai Wang
Chunrong Shan
Xinxin Jing
Qiuye Zhang
Hong Chang
Yi Lin
author_sort Dahai Wang
title Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
title_short Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
title_full Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
title_fullStr Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
title_full_unstemmed Clinical Features and Familial Mutations in an Autosomal-Inherited Alport Syndrome Patient With the Presentation of Nephrotic Syndrome
title_sort clinical features and familial mutations in an autosomal-inherited alport syndrome patient with the presentation of nephrotic syndrome
publisher Frontiers Media S.A.
publishDate 2021
url https://doaj.org/article/9365015f93d143ea87c6d54ffa9fb008
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