Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort
Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort
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DOI：
10.2215/cjn.03320410
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发表时间：
2011-01-01
影响因子：
9.8
通讯作者：
Moulin, Bruno
中科院分区：
文献类型：
--
作者：
Imhoff, Olivier;Marion, Vincent;Moulin, Bruno
背景与目的Bardet-Biedl综合征（BBS）是一种罕见的常染色体隐性遗传性睫状体病，具有广泛的临床特征，包括肥胖、视网膜色素变性、多指（趾）畸形、智力低下、性腺功能减退和肾脏异常。在最近鉴定了14个与原发性纤毛相关疾病有关的BBS基因后，目前正在研究BBS的分子遗传特征。本研究的目的是描述肾脏和心血管的表现，并分析基因型和临床表型之间可能的关系。设计，设置，参与者和测量本临床研究在33名BBS患者的全国队列中进行，22名男性和11名女性，所有年龄>16岁结果82%的患者有肾功能异常，包括肾功能损害和慢性间质性肾病。心血管评估显示，这组年轻患者具有显著的心血管危险因素。高血压发生率>30%，高脂血症发生率> 600%，近50%有其他代谢异常。显性糖尿病仅占6%。关于基因型-表型相关性，患者突变的BBS 6，BBS 10，或BBS 12基因（10的33例患者）有更严重的肾脏diseas.Conclusions我们的研究结果证实了频繁发生的肾脏受累的BBS患者，强调这些患者的心血管疾病的高风险，并提供了新的信息，可能的基因型-表型相关性。Clin J Am Soc肾病学6：22-29，2011。doi：10.2215/CJN.03320410
Background and Objectives Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The molecular genetic profile of BBS is currently being investigated after the recent identification of 14 BBS genes involved in primary cilia-linked disease. This study aims to characterize the renal and cardiovascular presentations and to analyze possible relationships between genotypes and clinical phenotypes.Design, setting, participants & measurements This clinical study was performed in a national cohort of 33 BBS patients, 22 men and 11 women, all aged >16 years (mean age 26.3 years).Results Renal abnormalities, including impairment of renal function and signs of chronic interstitial nephropathy of dysplastic nature, were documented in 82% of the patients. Cardiovascular evaluations revealed that this group of young patients had significant cardiovascular risk factors. Hypertension was found in >30% of the patients and hyperlipidemia in >600%, and almost 50% had other metabolic abnormalities. Overt diabetes was present in only 6%. With regard to genotype-phenotype correlation, patients with a mutation in the BBS6, BBS10, or BBS12 gene (10 of 33 patients) had more severe renal disease.Conclusions Our study results confirm the frequent occurrence of renal involvement in patients with BBS, underscore the high risk of cardiovascular disease in these patients, and provide new information on a possible genotype-phenotype correlation. Clin J Am Soc Nephrol 6: 22-29, 2011. doi: 10.2215/CJN.03320410