中国全科医学2018，Vol.21Issue(21)：2643-2646,4.DOI:10.3969/j.issn.1007-9572.2018.00.108
以反复泌尿道感染发病的Bardet-Biedl综合征一例报道及文献复习
A Case Report of Bardet-Biedl Syndrome with Recurrent Urinary Tract Infection and Literature Review
摘要
Abstract
Bardet-Biedl syndrome(BBS) is a rare autosomal recessive genetic disease with an occult onset.The features of BBS include polydactylism,obesity,progressive retinopathy,mental retardation,renal in sufficiency,and gonadal dysgenesis.BBS also has a high disability rate.We report a patient diagnosed with BBS and review the clinical features,laboratory test results,and diagnostic criteria to raise awareness of BBS.We recommend genetic testing for patients suspected to have BBS to establish the diagnosis and initiate treatment early,and to avoid misdiagnosis,which will improve the prognosis.关键词
巴德特-别德尔综合征/泌尿道感染/基因诊断Key words
Bardet-Biedl syndrome/Urinary tract infection/Gene diagnosis分类
医药卫生引用本文复制引用
林宝花,杨晓庆,沈彤..以反复泌尿道感染发病的Bardet-Biedl综合征一例报道及文献复习[J].中国全科医学,2018,21(21):2643-2646,4.基金项目
厦门市科技计划指导性项目(3502Z20149016) （3502Z20149016）
