PDF(Pubmed)
Abstract：
Objective: To analyze the phenotypes, genotypes, and the relationship of phenotypes and genotypes for Chinese patients with Bardet-Biedl syndrome (BBS). Methods: The Chinese Wanfang and Weipu data, and PubMed were searched up to December 2022. Patients with detailed clinical feature data were involved in the analysis. Results: A total of 153 Chinese patients, including 87 males, 53 females, and 12 unknown, were enrolled. Their ages ranged from 1.2 to 44 years old with a mean of 16.70 ± 9.90 years old. Among these patients, 80 (52.29%) were reported by ophthalmologists, and only 24 (15.68%) reported by pediatricians. Most patients (132/137, 96.35%) had visual problems; 131/153 (85.62%) had polydactyly; 124/132 (93.93%) were overweight or obese; 63/114 (55.26%) had renal abnormalities; kidney dysfunction was found in 33 (21.57%); 83/104 (79.81%) had hypogonadism and/or genital hypoplasia; and 111/136 (81.62%) had mental retardation. In this series, genetic analysis was performed in 90 (58.82%) patients, including 22 BBS7 (24.71%), 20 BBS2 (22.73%), and 10 BBS10 (11.24%) patients. Moreover, 11 fetuses were diagnosed prenatally in the last 4 years except for one patient in 2004 year. It was noted that BBS7 had higher penetrance. BBS2 had higher hearing impairment and lower renal abnormality penetrance. BBS10 also had lower renal abnormality penetrance as well. Conclusion: Misdiagnosis or miss diagnosis of BBS may be common in China. In patients with polydactyly, visual impairment, obesity, renal abnormalities, hypogonadism, and mental retardation, or in fetuses with polydactyly and/or renal abnormalities, BBS should be considered in the differential diagnosis. Other deformities should be evaluated carefully and genetic analysis should be performed as early as possible.
摘要：
目的:分析不同类型的表型,基因型，以及中国Bardet-Biedl综合征（BBS）患者表型和基因型的关系。方法：中国万方和维普数据，和PubMed被搜索到2022年12月。具有详细临床特征数据的患者参与分析。结果:共有153名中国患者,包括87名男性,53名女性,和12个未知，已注册。他们的年龄范围为1.2至44岁，平均为16.70±9.90岁。在这些患者中,眼科医生报告了80例(52.29%)，儿科医生报告的只有24例(15.68%)。大多数患者（132/137，96.35％）有视力问题；131/153（85.62％）患有多指畸形；124/132（93.93％）超重或肥胖；63/114（55.26％）有肾脏异常；发现肾功能障碍33（21.57％）；83/104（79.81％）有性腺功能减退症和/或生殖器发育不全；111/136（81.62％）。在这个系列中,对90例（58.82%）患者进行了基因分析，包括22个BBS7（24.71%），20BBS2（22.73%），10例（11.24%）BBS10患者。此外，在过去的4年中，除2004年的一名患者外，有11名胎儿在产前被诊断出。注意到BBS7具有较高的外显率。BBS2具有较高的听力损害和较低的肾脏异常外显率。BBS10也具有较低的肾异常穿透率。结论:BBS的误诊或漏诊在我国较为常见。在多指症患者中，视力障碍，肥胖，肾脏异常，性腺功能减退,和智力低下，或患有多指畸形和/或肾脏异常的胎儿，在鉴别诊断中应考虑BBS。应仔细评估其他畸形，并尽早进行遗传分析。
