肾病综合征分子遗传学研究进展

Recent progress in molecular genetics of nephrotic syndrome

肾病综合征(NS)是儿科常见的肾脏疾病,尽管临床上依据“三高一低”的症状及肾活检进行诊断,但由于发病机制不清楚,使我们不易作出其对激素治疗是否敏感的准确判断。随着分子遗传学的发展确定了一些NS相关新基因,为我们做到“基因诊断”、指导治疗奠定了基础。该文主要讨论先天性NS、常染色体隐性或显性家族性局灶节段性肾小球硬化(FSGS)、散发性NS以及综合征性弥漫性系膜硬化(DMS)或FSGS的分子遗传学进展。

Nephrotic syndrome （NS） is one of the common renal diseases in children. Although NS can be easily diagnosed by the typical manifestations and renal biopsy, the patients＇ responses to steroid administration cannot be predicted because the pathogenesis of NS is still unclear. With the development of molecular genetics, some novel genes involved in NS have been identified allowing the treatments to be guided by genetic diagnosis. This review discussed the recent progress in molecular genetics of congenital NS, autosomal recessive or dominant family fecal segmental glomerulosclerosis （FSGS）, sporadic NS and symptomatic diffused mesangial sclerosis or FSGS.