家族性局灶节段性肾小球硬化

局灶节段性肾小球硬化(focal segmental glomerulosclerosis,FSGS)是一种肾脏病理改变,以蛋白尿、肾病综合征和进行性肾功能损害为特征,是终末期肾病的常见原因.近年来,常染色体显性遗传和隐性遗传家族性局灶节段性肾小球硬化(familial FSGS)陆续报道,家族性FSGS基因的发现将有助于了解原发性FSGS的发病机制、分子基础和病理生理.文章总结了近年来有关疾病的临床特征、诊断、发病机制、治疗及预后的研究进展.

Familial focal segmental glomerulosclerosis

Focal segmental glomerulosclerosis(FSGS)is defined as a clinical-pathologic syndrome and it is manifested by proteinuria,nephrotic syndrome,and progressively loss of renal function.It is a common cause of end-stage renal disease(ESRD).Recently,familial FSGS(FFSGS)including both autosomal dominant and recessive forms of inheritance have been discovered.Identification of the genes responsible for FFSGS will provide valuable insights into the pathogenesis and pathophysiology of FSGS on molecular basis.Recent advances on the clinical features,diagnosis,pathogenesis,treatment and prognosis of FFSGS were reviewed extensively in the review.