【摘要】 目的通过对家族性局灶节段性肾小球硬化(FFSGS)一个家系患者中出现相关肾脏病变表现的患者的人辅肌动蛋白α4(ACTN-4)基因进行分析,明确ACTN-4与FFSGS的关系。方法通过对该家族全部50名家庭成员进行临床检查,筛查出所有出现肾脏累及的患者,采取其外周血标本,对ACTN-4相关基因进行连锁分析,以明确该家族中是否存在ACTN-4基因变异而导致FSGS。结果该家族的遗传方式为常染色体显性遗传。50名此家族中的家庭成员有10例出现肾脏损害。其中,先证者22岁发现肌酐升高,对此家族中全部10例出现肾脏受累的患者应用PCR技术进行ACTN-4基因的连锁分析,发现该家族的ACTN-4存在184T>A(S62T)突变。结论该家族FSGS的发病与ACTN-4基因的变异有关。更多还原

【Abstract】 Objective To analyze the gene of α-actinin-4(ACTN-4) in one familial with focal segmental glomerulosclerosis(FFSGS), and to find the association between ACTN-4 and FFSGS. Methods The clinical features of all family members were analyzed, and to found out all patients with renal involvement. We collected peripheral blood of all affected patients, then analyzed ACTN-4 gene. Results The phenotype of this family was autosomal dominant inheritance. There were ten patients of all family members who had kidney damage. Through analysis we could learn that the 184T>A(S62T) locus of ACTN-4 occurred a mutation. Conclusion The morbidity associated with ACTN-4 gene mutation in familial FSGS.更多还原