A case report and literature study on Alport syndrome featuring nephrotic syndrome as its primary manifestation

肾病综合征 阿尔波特综合征 医学 肾活检 先天性肾病综合征 蛋白尿 肾小球肾炎 病理 局灶节段性肾小球硬化 肾脏疾病 微小变化病 疾病 儿科 内科学 皮肤病科
作者
Zhuo Deng,Qi Zhou,Tong Zhou
出处
期刊:Transplant Immunology [Elsevier BV]
卷期号:81: 101941-101941
标识
DOI:10.1016/j.trim.2023.101941
摘要

Historically, due to the lack of distinct clinical symptoms, Alport syndrome, a hereditary kidney disease prevalent in children and a leading cause of kidney failure, has often been misdiagnosed as other kidney conditions.This article presents a comprehensive review and analysis of clinical data concerning a child diagnosed with Alport syndrome, where nephrotic syndrome served as the primary manifestation. The male child in this case exhibited symptoms starting at the age of 6, initially diagnosed as nephrotic syndrome. Consequently, oral steroid medication was administered, proving ineffective. Due to persistent proteinuria and microscopic hematuria, a renal biopsy was performed. Immunofluorescence staining revealed no abnormal expression of the α3, α4, and α5 chains of type IV collagen. Notably, electron microscopy revealed the basement membrane to be partially torn and arachnoid. Genetic testing indicated a hemizygous COL4A5 acceptor-splice-site mutation c.4707-1(IVS50)G > A, inherited from his mother.This specific mutated locus, being the first of its kind reported, adds valuable information to the existing gene mutation spectrum of Alport syndrome. Consequently, it emphasizes the importance for clinicians to deepen their understanding of rare kidney diseases, contributing to enhanced diagnostic accuracy and improved patient care.

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