巴尔得-别德尔综合征1例

Bardet-Biedl syndrome:a case report

巴尔得-别德尔综合征(Bardet-Biedl syndrome,BBS)是一种常染色体隐性遗传罕见病,临床表型异质性大,可波及多系统,如六指/趾畸形、智力低下、视网膜病变、多囊肾等,容易被按照单一系统疾病诊断而导致误诊。该文报道1例BBS病例,患者5岁被诊断为“肾囊肿,发育延迟,软骨病,左足六趾畸形”,7岁时出现“贫血,肾功能不全,远端肾小管中毒,肾性骨病”,10岁因“尿毒症”接受血液透析治疗,14岁时出现双眼视物模糊。由于患者肾损害表现突出而长期被误诊为“多囊肾”。基因测序结果显示16号染色体NM_031885.5 exon17有1个纯合无义突变,精准诊断为BBS。该文为中国第1例黎族BBS病例报告。通过复习BBS相关文献,以期加强临床医师对该病的认识,改善患者预后。

Bardet-Biedl syndrome(BBS)is an autosomal recessive hereditary rare disease with high heterogeneity in clinical phenotypes,which can affect multiple systems,such as six fingers/digits deformity,mental impairment,retinopathy,polycystic kidney,etc,and is easily diagnosed according to a single system disease,resulting in misdiagnosis.The paper reports a case of BBS,diagnosed with"renal cyst,developmental delay,chondrosis,and left foot hexadactylism"at 5 years old,"anemia,renal insufficiency,distal renal tubule poisoning,renal osteodystrophy"at 7 years old.At 10 years old,the patient received hemodialysis treatment for uremia.Cloudy vision appeared in both eyes at 14 years old.Because of the prominent manifestation of kidney damage,the patient was misdiagnosed as"polycystic kidney"for a long time,and other systemic damages were ignored.The result of gene sequencing showed that chromosome 16 NM_031885.5 exon17 had one homozygous nonsense mutation.Therefore,the patient was accurately diagnosed as BBS.This paper is the first report of BBS in Li nationality in China.The relevant literature of BBS were reviewed to strengthen clinicians'understanding of the disease and improve patients'prognosis.