文章摘要

儿童COL4A5基因新突变致Alport综合征1例

作者: 1刘玉洁, 1刘丹丹, 1魏磊, 1曹广海, 1刘翠华
1 郑州大学附属儿童医院，河南省儿童医院，郑州儿童医院肾脏风湿科，郑州市儿童肾脏病研究重点实验室，郑州 450000
通讯: 刘翠华 Email: lchlch123@126.com
DOI: 10.3978/j.issn.2095-6959.2022.06.037
基金: 河南省医学科技攻关计划联合共建项目(LHGJ20190939)。

摘要

回顾分析1例以镜下血尿为主要临床表现的Alport综合征患儿的临床资料以及患儿及其父母、哥哥的COL4A5基因检测结果。患儿男性，7岁起病，表现为镜下血尿，尿红细胞形态分析持续可见芽孢红细胞等变形红细胞，支持肾小球源性血尿，无明显蛋白尿及肾功能异常，母亲与患儿症状相似；患儿肾活检病理提示肾小球病变轻微，未见免疫复合物介导的肾小球肾炎，免疫荧光染色提示IV型胶原免疫荧光染色α3、α5未见异常表达，基因检测示COL4A5基因的1个变异：chrX:107802295，c.143(exon3)G>A，导致氨基酸改变p.G48E(p. Gly48Glu) (NM_033380)，为半合子，突变来自母亲(杂合子)。该突变位点为首次报道。
关键词： 基因突变；COL4A5；Alport综合征

Alport syndrome caused by a novel mutation of COL4A5 gene in a child: A case report

Authors: 1LIU Yujie, 1LIU Dandan, 1WEI Lei, 1CAO Guanghai, 1LIU Cuihua
1 Department of Nephrology and Rheumatology, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou Key Laboratory of Pediatric Kidney Disease Research, Zhengzhou 450000, China

CorrespondingAuthor: LIU Cuihua Email: lchlch123@126.com

DOI: 10.3978/j.issn.2095-6959.2022.06.037

Foundation: This work was supported by the Henan Medical Science and Technology Joint Project, China (LHGJ20190939).

Abstract

Clinical data and family genetic test results of one child with Alport syndrome with microscopic hematuria as the main clinical manifestation were retrospectively analyzed. The patient was male, 7 years old, presenting with microscopic hematuria. Morphological analysis of urinary erythrocytes continued to show deformed erythrocytes such as spore, supporting glomerular hematuria, without obvious proteinuria and renal failure. The mother had similar symptoms. Renal biopsy pathology suggested minor glomerular lesions, without immune complex deposition. Immunofluorescence staining of basement membrane of α 3 and α 5 were normal. Gene sequencing identified a hemizygous mutation of c.143(exon3)G>A in COL4A5 gene, resulted in amino acid changes of p.G48E(p. Gly48Glu). The proband’s mother carried the mutant gene. This mutation was first reported.

Keywords： genetic mutation;COL4A5; Alport syndrome

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