多指畸形，肥胖，双肾囊肿，视网膜色素变性  

Polydactyly,obesity,renal cystis,and retinitis pigmentosa

作　　者：王荣(整理)[1] 程震[1] 

机构地区：[1]南京军区南京总医院全军肾脏病研究所,南京210002

出　　处：《肾脏病与透析肾移植杂志》2012年第6期582-586,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

摘　　要：报道1例青少年男性患者,以先天性多指(趾)畸形、视网膜色素变性、肥胖、肾囊肿、慢性肾功能不全、阴茎及睾丸小等多系统病变为临床表现,诊断为常染色体隐性遗传疾病——性幼稚-色素性视网膜炎-多指畸形综合征(Bardet-Biedl-syndrome,BBS)。通过对该例患者的分析,以期提高医生对本病的认识。A 16-years old patient with polydactyly, retinitis pigmentosa, obesity, renal cysts, chronic renal insufficiency, and gonadal dysgenesis was reported and diagnosed as Bardet-Biedl-Syndrome which is a autosomal recessive genetic disease. This report may be helpful for the clinician to know more about the characteristics of BBS.

关 键 词：多指肥胖肾囊肿视网膜色素变性 

分 类 号：R774.13[医药卫生—眼科]