多指（趾）畸形与肥胖——纤毛病的临床表现：一名患有巴德-比德尔综合征的男孩

Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

作者信息

Szmigielska Agnieszka, Krzemień Grażyna, Roszkowska-Blaim Maria, Obersztyn Ewa

机构信息

Department of Pediatric Nephrology, The Medical University of Warsaw, Żwirki i Wigury 63A, Warsaw, Poland Telephone: (+48 22) 317-96-65 Fax: (+48 22) 317-99-54 e-mail:

Department of Pediatric Nephrology, The Medical University of Warsaw, Poland.

出版信息

Dev Period Med. 2016 Apr-Jun;20(2):105-9.

PMID:27442694

Abstract

UNLABELLED

The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of obesity. We present the case of a boy with pathological obesity and Bardet-Biedl syndrome (BBS). BBS is a ciliopathy, a heterogeneous group of rare disorders associated with defects in primary cilia. Other clinical signs and symptoms of BBS are: polydactyly, hypertension, hyperlipidemia, hypogonadotrophic hypogonadism, intellectual disability, rod-cone dystrophy, genitourinary and renal abnormalities.

CONCLUSIONS

genetic factors of rapid weight gain should be taken into consideration in a child with obesity. Polydactyly can be associated with ciliopathy. A patient with Bardet-Biedl syndrome requires multi-specialist care.

摘要

未标注

全球儿童肥胖率仍在上升。体重显著增加的最常见原因是高热量饮食和体力活动减少。然而，除环境因素外，遗传易感性在肥胖的发病机制中起着关键作用。我们报告一例患有病理性肥胖和巴德-比德尔综合征（BBS）的男孩病例。BBS是一种纤毛病，是一组与原发性纤毛缺陷相关的罕见异质性疾病。BBS的其他临床体征和症状包括：多指畸形、高血压、高脂血症、低促性腺激素性性腺功能减退、智力残疾、视杆-视锥营养不良、泌尿生殖系统和肾脏异常。