关键词: 巴德特-别德尔综合征, 泌尿道感染, 基因诊断

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.

Key words: Bardet-Biedl syndrome, Urinary tract infection, Gene diagnosis