一名患有巴德-比德尔综合征儿童的肾移植：终末期肾病的罕见病因。
Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease.
作者信息
Hooda A K, Karan S C, Bishnoi J S, Nandwani A, Sinha T
机构信息
Department of Nephrology, Army Hospital (R&R), Delhi Cantt, New Delhi-110 010, India.
出版信息
Indian J Nephrol. 2009 Jul;19(3):112-4. doi: 10.4103/0971-4065.57108.
Abstract
Bardet-Biedl syndrome (BBS) is a rare cause of renal failure requiring renal replacement therapy. It is an autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal involvement. We report the first successful renal transplant in a case of BBS from India.
摘要
巴德-比德尔综合征（BBS）是导致肾衰竭需要肾脏替代治疗的罕见病因。它是一种常染色体隐性疾病，其特征为色素性视网膜炎、轴后多指（趾）畸形、向心性肥胖、智力迟钝、性腺功能减退以及肾脏受累。我们报道了印度首例巴德-比德尔综合征患者成功进行肾移植的病例。
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