COL4A5基因突变致X连锁Alport综合征的1例家系

A case of X-linked Alport syndrome caused by COL4A5 gene mutation in a family

Alport综合征是最常见的遗传性肾脏病之一。其临床表型除与该病相关的基因变异相关,还同其他基因状况、生活环境等因素密切相关,故即使同一家系中拥有相近基因型的个体也会出现不同的疾病表现。本研究对中国中医科学院广安门医院1例具有复杂家系的慢性肾脏病患者开展调查,收集患者及其家族成员临床资料,采用三代基因测序技术对患者及多位亲属的外周血DNA进行遗传学分析,结果显示家族中多人为COL4A5[c.152G>A(p.Gly51Glu)]基因突变导致的Alport综合征。文章就X连锁Alport综合征的临床特点及预后进行文献复习,结合对该家系多个受累成员发病情况分析,旨在提高临床医生对该病特点及遗传规律的认识。

Alport syndrome is one of the most common hereditary kidney diseases.Its clinical phenotype is closely correlated with other genetic conditions,as well as the environment,in addition to the genetic variations associated with the disease.As a result,even members of the same family who have similar genotypes may display a different clinical phenotype.This study investigates a patient with chronic kidney disease from a complex family in Guang'anmen Hospital,China Academy of Chinese Medical Sciences,clinical information about the patient and their family members was gathered,and third-generation gene sequencing technology was used to perform genetic analysis on the patient's peripheral blood DNA as well as the DNA of several other family members.The findings indicate that several members of the family have the gene mutation for COL4A5 [c.152G>A(p.Gly51Glu)] that causes Alport syndrome.The goal of the article is to increase clinical doctors' comprehension of the symptoms and genetic patterns of the disease by reviewing the clinical features and prognosis of X-linked Alport syndrome and analyzing the occurrence of several afflicted family members.