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

摘要： Bardet-Biedl综合征（BBS）是一种罕见的常染色体隐性遗传病，临床表现隐匿，主要为多指（趾）畸形、肥胖、进行性视网膜病变、智力发育迟缓、肾功能不全、男性性腺功能发育不全，有较高致残率。本文通过报道1例确诊为BBS患儿的诊治过程，并进行文献复习，总结其临床特点、实验室检查及诊断标准，以提高临床医生对BBS的认识，早期诊断，避免漏诊误诊，从而改善患者预后。

关键词: 巴德特-别德尔综合征, 泌尿道感染, 基因诊断