内科2023，Vol.18Issue(6)：567-570,4.DOI:10.16121/j.cnki.cn45-1347/r.2023.06.12
1个北方汉族家族性免疫球蛋白A肾病的家系分析和致病基因诊断
Pedigree analysis and pathogenic genetic diagnosis of familial immunoglobulin A nephropathy in a Han family from northern China
杨媛茹 1李增艳1
作者信息
- 1. 内蒙古科技大学包头医学院第一附属医院肾内科,包头市 014000
- 折叠
摘要
Abstract
Objective To study a pedigree with familial immunoglobulin A(IgA)nephropathy and analyze its pathogenic genes.Methods A pedigree with familial IgA nephropathy was investigated,genomic DNA was collected from the peripheral blood of the family members,and the pathogenic genes were searched for by whole exome sequencing.Results There were 26 members in 5 generations in the pedigree,of which 12 members showed the clinical manifestation of renal involvement,6 members showed proteinuria,3 members showed microscopic hematuria,and 3 members were diagnosed with mesangial proliferative IgA nephropathy by renal pathological biopsy.The INF2 gene mutation of c.653 G＞A(p.R218Q)was found in the proband by whole exome sequencing of genomic DNA.Conclusions Familial IgA nephropathy was found in this pedigree,and whole exome sequencing revealed the INF2 gene mutation of c.653G＞A(p.R218Q),which was pathogenic.关键词
家族性免疫球蛋白A肾病/全外显子组测序/INF2基因/家系Key words
Familial immunoglobulin A nephropathy/Whole exome sequencing/INF2 gene/Pedigree分类
医药卫生引用本文复制引用
杨媛茹,李增艳..1个北方汉族家族性免疫球蛋白A肾病的家系分析和致病基因诊断[J].内科,2023,18(6):567-570,4.
