成年Bardet-Biedl综合征1例并文献复习  

Adult Bardet-Biedl Syndrome:A Case Report and Literature Review

作　　者：谢宏波 王艳 赵豫梅[3] 张皓炜 付佳 毛玉熠 韩睿[3] XIE Hong-bo;WANG Yan;ZHAO Yu-mei;ZHANG Hao-wei;FU Jia;MAO Yu-yi;HAN Rui(Department of Endocrinology and Metabolism,Yunnan Pu'er people's Hospital,Pu'er 665000,Yunnan Province,China;Department of Endocrinology,Xuanwei First People's Hospital of Yunnan Province,Qujing 655000,Yunnan Province,China;Department of EndocrinologyⅡ,The First Affiliated Hospital of Kunming Medical University,Kunming 650000,Yunnan Province,China)

机构地区：[1]云南省普洱市人民医院内分泌代谢科,云南普洱665000 [2]云南省宣威市第一人民医院内分泌科,云南曲靖655000 [3]云南省昆明医科大学第一附属医院内分泌二科,云南昆明650000

出　　处：《罕少疾病杂志》2021年第2期4-5,共2页Journal of Rare and Uncommon Diseases

摘　　要：Bardet-Biedl综合征(BBS)是一种罕见的常染色体隐性遗传性疾病,为探讨BBS的临床特点、发病机制及诊治,回顾性分析1例男性BBS患者的病史资料和辅助检查报告,并复习相关文献。本研究中,患者27岁男性,临床表现有多指(趾)畸形、视网膜色素变性(严重者失明)、肥胖、智力发育迟缓、性腺发育不全、糖耐量异常。应提高对BBS的认识,注意鉴别诊断,避免漏诊误诊。Bardet-Biedl syndrome(BBS)is a rare autosomal recessive genetic disease.In order to investigate the clinical features,pathogenesis,diagnosis and treatment of BBS.Study the medical history and auxiliary examination report of a male BBS patient were retrospectively analyzed,and the related literature was reviewed.The patient was a 27-year-old male with clinical manifestations of multiple finger(toe)malformation,retinitis pigmentosa(blindness in severe cases),obesity,mental retardation,gonadal hypoplasia,and abnormal glucose tolerance.It should be improving the understanding of BBS,to pay attention to differential diagnosis,to avoid misdiagnosis.

关 键 词：BARDET-BIEDL综合征 成人 染色体病 

分 类 号：R596.1[医药卫生—内科学]