title: Development of end-stage renal disease at a young age in two cases with Joubert syndrome.
abstract: Joubert syndrome (JS) is an autosomal recessive genetic disorder. To date, mutations in 20 genes of the genetically heterogeneous JS and JS-related disorders (JSRD) have been reported. Renal involvement occurs in 2-20% of JS cases. Identified renal abnormalities are cystic dysplasia and nephronophthisis. Here we report the clinical course and management of renal failure in early childhood. We present two cases diagnosed with JS that developed end-stage renal disease at young ages. In the genetic studies, a c.5668G>T (p.G1890*) homozygous stop mutation was identified in the CEP290 gene of one of the patients and a c.1303C>G (p.R435G) homozygous mutation in the INPP5E gene of the other. It has been emphasized that it is important to evaluate patients in terms of renal disease when monitoring the progress of Joubert syndrome, a condition that predominantly causes mental and motor development retardation.
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics, Adnan Menderes University Faculty of Medicine, Aydın, Turkey. dr.dlkylmz@gmail.com.
authors.forename: Ferah
authors.initials: F
authors.lastname: Sönmez
authors.forename: Melike
authors.initials: M
authors.lastname: Güzünler-Şen
authors.forename: Dilek
authors.initials: D
authors.lastname: Yılmaz
authors.forename: Gamze
authors.initials: G
authors.lastname: Cömertpay
authors.forename: Marisol
authors.initials: M
authors.lastname: Heise
authors.forename: Sebahattin
authors.initials: S
authors.lastname: Çırak
authors.forename: Gökhan
authors.initials: G
authors.lastname: Uyanık
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000150:complications / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000209:etiology*; D012160:Retina / Q000002:abnormalities*