基因筛查在儿童肾病综合征诊治中的意义

Significance of genetic screening in diagnosis and treatment of nephrotic syndrome in children

原发性肾病综合征是儿童时期常见的泌尿系统疾病，尽管绝大多数儿童原发性肾病综合征患者对激素敏感，预后较好，但仍有10％-20％对激素耐药，称为激素耐药性肾病综合征（SRNS）。SRNS是导致儿童终末期肾脏病（ESRD）的主要原因之一。近年来，儿童SRNS与基因突变的相关性研究取得了突破性进展，约有20个相关突变基因已经被克隆、定位，而这类与基因相关的肾病综合征已纳入遗传性肾病综合征范畴。该文简述了常见遗传性肾病综合征分子生物学、临床及病理特征，以期对临床诊治遗传性肾病综合征有一定指导意义。

Primary nephrotic syndrome is a common urinary system disease in children and among these about 10%-20% children are suffering steroid-resistant nephritic syndrome （SRNS）. SRNS is one of the main causes of end-stage renal dis- ease （ESRD） in children, and it is also a problem in clinical treatment. In recent years, a breakthrough in the research of correlation between SRNS in children and gene mutation had been made. Till now, about 20 relevant genes have been cloned and characterized. As a result, the value of genetic screening in diagnosis and treatment of nephrotic syndrome in children has attracted more and more attentions, and the nephritic syndrome triggered by genetic mutation is now called hereditary nephrotic syndrome. This article puts an eye on the molecular,clinical and histological aspects of various forms of hereditary nephrotic syndrome in an attempt to propose a guide for the diagnosis and treatment of hereditary nephrotic syndrome.