多处COL4A4基因突变薄基底膜肾病1例并文献复习
| 作者: |
1刘玉洁,
1张书锋,
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 450000 |
| 通讯: |
刘翠华
Email: lchlch123@126.com |
| DOI: | 10.3978/j.issn.2095-6959.2019.11.036 |
摘要
回顾性分析1例薄基底膜肾病(thin basement membrane nephropathy，TBMN)患儿的临床资料以及患儿及其父母、哥哥的COL4A4基因检测结果。患儿，女，7岁，临床症状以血尿为主，实验室检查提示血尿、蛋白尿，肾组织病理结果支持TBMN诊断，COL4A4基因存在两处杂合变异：chr2-227872070(c.5044C>G；p.R1682G)，chr2-227967565(c.871-1G>A；splicing)。前者来源于父亲，后者来源于母亲，哥哥存在COL4A4变异，位置位于chr2-227967565(c.871-1G>A；splicing)，来源于母亲。目前人类基因突变数据库(Human Gene Mutation Database，HGMD)中并无上诉两处位点的相关性报道，此两处突变可能引起TBMN。
关键词：
儿童；血尿；薄基底膜肾病；COL4A4
Thin basement membrane nephropathy with multiple COL4A4 gene mutations: A case report and literature review
CorrespondingAuthor: LIU Cuihua Email: lchlch123@126.com
DOI: 10.3978/j.issn.2095-6959.2019.11.036
Abstract
Clinical data of one child with thin basement membrane nephropathy (TBMN) and the results of COL4A4 gene detection in the child and her family were retrospectIVely analyzed. The patient was a girl of 7 years old. Hematuria was the major symptom at onset. Laboratory findings showed hematuria and proteinuria. Renal pathological change support the diagnosis of thin basement membrane nephropathy. COL4A4 gene analysis showed two heterozygous mutations in c.5044C>G; p.R1682G and c.871-1G>A; splicing. Her father carried the heterozygous mutations of c.5044C>G; p.R1682G. Her mother carried the heterozygous mutations of c.871-1G>A; splicing. Her brother got the heterozygous mutations of c.871-1G>A; splicing from mother. The two COL4A4 heterozygous mutations of the child may cause TBMN, and has not been reported in the Human Gene Mutation Database (HGMD).
Keywords：
child; hematuria; thin basement membrane nephropathy; COL4A4