The Turkish Journal of Pediatrics 2014 , Vol 56 , Num 4
Development of End-Stage Renal Disease at a Young Age in Two Cases with Joubert Syndrome
1Division of Pediatric Nephrology, Department of Pediatrics, Adnan Menderes University Faculty of Medicine, 2Department of Pediatrics, Nazilli Hospital, Aydın, 3Department of Medical Biology, Çukurova University Faculty of Medicine, Adana, Turkey, 4Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Germany, 5Childrens National Medical Center, Research Center for Genetic Medicine, Washington, DC, USA, 6Center for Medical Genetics, Hanusch Hospital, Vienna, Austria.
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. Keywords : Joubert syndrome, Joubert syndrome-related disorders, nephronophthisis, chronic kidney disease.

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