Bardet Biedl综合征的诊治进展

doi:10.12372/jcp.2024.22e1314

摘要/Abstract

摘要：

Bardet Biedl综合征(BBS)是一种罕见的累及多系统的常染色体隐性遗传病，主要特征为视网膜病变、多指（趾）畸形、肥胖、智力低下、性腺发育不良和肾功能异常。迄今已明确26种致病基因，均定位于初级纤毛上，其中BBS1、BBS2和BBS10是最常见的变异基因。对于该疾病目前尚无治愈性疗法，主要以对症支持治疗为主。本文从临床特点、诊断标准、致病基因、我国BBS患者现状、治疗等角度对该疾病进行综述，以期为临床对此类疾病的诊治提供参考。

关键词: Bardet Biedl综合征, 诊断标准, 致病基因, 治疗

Abstract:

The Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder affecting multiple systems, primarily manifesting as retinal lesions, polydactylism (or hyperdactylism), obesity, intellectual diminution, sexual duct development deficiency, and renal abnormalities. To date, 26 disease-causing genes have been identified, all of which are localised to the primary cilia, with the BBS1, BBS2 and BBS10 genes being the most common genetic causes. There is no curative therapy for this disease, and symptomatic supportive treatment is the main focus. This paper reviews the disease from the perspectives of clinical characteristics, diagnostic criteria, causative genes, the current situation of BBS patients in China, and treatment, with a view to providing reference for the clinical diagnosis and treatment of this disease.

Key words: Bardet Biedl syndrome, diagnostic criteria, pathogenic gene, management

林娇, 徐鑫星, 王传凯, 蒋丽琼, 王春林. Bardet Biedl综合征的诊治进展[J]. 临床儿科杂志, 2024, 42(2): 157-163.

LIN Jiao, XU Xinxing, WANG Chuankai, JIANG Liqiong, WANG Chunlin. Progress in diagnosis and treatment of Bardet Biedl syndrome[J]. Journal of Clinical Pediatrics, 2024, 42(2): 157-163.

图/表 2

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项目		n（%）
女		57（41.0）
男		82（59.0）
视网膜病变		127（91.4）
多指（趾）畸形		124（89.2）
肥胖		125（89.9）
性腺发育不良		75（54.0）
智力低下		108（77.7）
肾功能异常		51（36.7）
先天性心脏病		9（6.5）
糖代谢异常		15（10.8）
口腔和牙异常		15（10.8）
脂质代谢异常		11（7.9）

变异基因	n（%）
BBS1	7（9.1）
BBS2	18（23.4）
BBS3/ARL6	2（2.6）
BBS4	3（3.9）
BBS5	3（3.9）
BBS6/MKKS	6（7.8）
BBS7	19（24.7）
BBS9	6（7.8）
BBS10	7（9.1）
BBS12	5（6.5）
BBS13/MKS1	1（1.3）