title: Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer?
abstract: Unilateral multicystic dysplastic kidney is one of the most frequently identified urinary tract abnormalities in children. Although it can be an isolated finding, it is often associated with other anomalies of the kidney and urinary tract. It has also been described in association with other multisystemic disorders of known genetic aetiologies. Cowden disease (CD) is a rare autosomal-dominant disorder with age-related penetrance characterized by benign and malignant hamartomatous lesions affecting derivatives of all three germ cell layers. Hamartomas can emerge in virtually every organ, but are mostly found in the skin and gastrointestinal tract. We report a 7-year-old patient presenting with unilateral multicystic dysplastic kidney and CD, a hitherto unknown association in paediatrics, which raises the question of an increased risk of renal cancer.
authors.affiliation: Centre de Référence des Maladies Rénales Rares Néphrogenes , Hospices Civils de Lyon et Université Claude-Bernard Lyon 1 , Lyon , France ; Serviço de Pediatria , Centro Hospitalar São João , Porto , Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Teixeira
authors.affiliation: Service de Cytogénétique Constitutionnelle , Groupement Hospitalier Est, Hospices Civils de Lyon et Inserm U1028; CNRS UMR5292; Université Lyon 1; Centre de Recherches en Neurosciences de Lyon, équipe TIGER , Lyon F-69000 , France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.affiliation: Centre de Référence des Maladies Rénales Rares Néphrogenes , Hospices Civils de Lyon et Université Claude-Bernard Lyon 1 , Lyon , France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Cochat
keywords: Cowden disease; PTEN tumour suppressor gene; hamartoma; multicystic dysplastic kidney