Bardet Biedl综合征的诊治进展

doi:10.12372/jcp.2024.22e1314

Abstract

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

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.

Figures/Tables 2

References 43

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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）

Progress in diagnosis and treatment of Bardet Biedl syndrome

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