title: Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.
abstract: 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.
authors.affiliation: 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: agnieszka.szmigielska@wum.edu.pl.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Szmigielska
authors.affiliation: Department of Pediatric Nephrology, The Medical University of Warsaw, Poland.
authors.forename: Grażyna
authors.initials: G
authors.lastname: Krzemień
authors.affiliation: Department of Pediatric Nephrology, The Medical University of Warsaw, Poland.
authors.forename: Maria
authors.initials: M
authors.lastname: Roszkowska-Blaim
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
mesh_terms: D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000175:diagnosis*; D002648:Child; D002923:Cilia; D006801:Humans; D008297:Male; D063766:Pediatric Obesity / Q000150:complications* / Q000175:diagnosis; D017689:Polydactyly / Q000150:complications* / Q000175:diagnosis
keywords: ciliopathy; dysplastic kidney; obesity; polydactyly; retinitis pigmentosa