多指畸形，肥胖，双肾囊肿，视网膜色素变性

肾脏病与透析肾移植杂志 ›› 2012, Vol. 21 ›› Issue (6): 582-586.

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多指畸形，肥胖，双肾囊肿，视网膜色素变性

出版日期:2012-12-28 发布日期:2012-12-31

Polydactyly, obesity, renal insufficiency, and retinitis pigmentosa

Online:2012-12-28 Published:2012-12-31

摘要/Abstract

摘要：

摘要本文报道了1例少年男性患者，临床表现为多系统病变：先天性多（趾）指畸形，视网膜色素变性，肥胖，肾囊肿，慢性肾功能不全，阴茎、睾丸小，诊断为常染色体隐性遗传疾病Bardet-Biedl-Syndrome (BBS，性幼稚-色素性视网膜炎-多指畸形综合征）。通过对该例患者的分析，以期提高医生对本病的认识。

Abstract:

ABSTRACT 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.

Key words: Keywords , Polydactyly , obesity , renal cysts , retinitis pigmentosa

全军肾脏病研究所学术委员会.
多指畸形，肥胖，双肾囊肿，视网膜色素变性[J]. 肾脏病与透析肾移植杂志, 2012, 21(6): 582-586.

Academic Committee of Research Institute of Nephrology. Polydactyly, obesity, renal insufficiency, and retinitis pigmentosa[J]. Chinese Journal of Nephrology, Dialysis & Transplantation, 2012, 21(6): 582-586.

ISSN 1006-298X CN 32-1425/R

多指畸形，肥胖，双肾囊肿，视网膜色素变性

Polydactyly, obesity, renal insufficiency, and retinitis pigmentosa

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