A Novel Homozygous Mutation in the COL4A4 Gene (Gly1436del) Causing Alport Syndrome Exposed by Pregnancy: A Case Report and Review of the Literature.

Case Reports in Nephrology Pub Date : 2022-01-04 eCollection Date: 2022-01-01 DOI:10.1155/2022/5243137

Ulrich Jehn, Cornelie Müller-Hofstede, Barbara Heitplatz, Veerle Van Marck, Stefan Reuter, Hermann Pavenstädt, Britta George

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引用次数: 1

Abstract

Background: Alport syndrome results from a hereditary defect of collagen IV synthesis. This causes progressive glomerular disease, ocular abnormalities, and inner ear impairment. Case Presentation. Herein, we present a case of Alport syndrome in a 28-year-old woman caused by a novel mutation (Gly1436del) in the COL4A4 gene that was not unveiled until her first pregnancy. Within the 29^th pregnancy week, our patient presented with massive proteinuria and nephrotic syndrome. Light microscopic examination of a kidney biopsy showed typical histological features of segmental sclerosis, and electron microscopy revealed extensive podocyte alterations as well as thickness of glomerular basement membranes with splitting of the lamina densa. One and a half years after childbirth, renal function deteriorated to a preterminal stage, whereas nephrotic syndrome subsided quickly after delivery.

Conclusion: This case report highlights the awareness of atypical AS courses and emphasizes the importance of genetic testing in such cases.

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妊娠暴露导致Alport综合征的COL4A4基因(Gly1436del)新纯合突变1例报告及文献复习

背景:Alport综合征是由胶原合成的遗传性缺陷引起的。这会导致进行性肾小球疾病、眼部异常和内耳损伤。案例演示。在这里，我们提出了一个28岁的妇女Alport综合征的病例，由COL4A4基因的一种新的突变(Gly1436del)引起，直到她第一次怀孕才揭晓。在妊娠第29周，我们的患者出现了大量蛋白尿和肾病综合征。肾活检的光镜检查显示典型的节段性硬化症的组织学特征，电镜显示广泛的足细胞改变以及肾小球基底膜的厚度，并伴有层状致密的分裂。分娩后1年半，肾功能恶化至终末期，而肾病综合征在分娩后迅速消退。结论:本病例报告强调了对非典型AS病程的认识，并强调了基因检测在此类病例中的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Nephrology Medicine-Nephrology

CiteScore

1.70

自引率

0.00%

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