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伴有终末期肾病的巴德-比德尔综合征

Bardet-Biedl Syndrome with End Stage Renal Disease.

作者信息

Parakh Rajendrakumar, Nairy Dhananjaya Matapadi

机构信息

Department and Institutions, SDM College of Medical Sciences and Hospital, Sattur, Dharwad-580009, State-Karnataka, India.

出版信息

Iran J Med Sci. 2016 Nov;41(6):539-542.

Abstract

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental retardation, along with a brief review of the literature. The patient had end stage renal disease and managed with dialysis. This case also exemplifies the need for multidisciplinary approach in the management of such cases.

摘要

巴德-比德尔综合征(BBS)是一种罕见的常染色体隐性疾病,会影响身体的多个器官。这种疾病的体征和症状在受影响的个体之间存在差异,即使是在同一家族的成员中也是如此。我们报告一例具有性腺功能减退特征以及明显的中心性肥胖、色素性视网膜炎、多指畸形、肾脏异常和智力发育迟缓等特征的BBS病例,并对相关文献进行简要综述。该患者患有终末期肾病,接受透析治疗。该病例还例证了对此类病例进行管理时采用多学科方法的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8fb3/5106570/a7c6acfc1e37/IJMS-41-539-g001.jpg

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