Abstract

Joubert syndrome is a ciliopathy that affects various tissue and organ. As clinically and genetically it is a heterogenic syndrome, it shows serebellar vermis hypoplasia, ‘molar tooth’ sign in neuroradiologic imaging, atypical breathing pattern, development deficiency, retinal dystrophy, and renal anomalies. Renal involvement observed in 20%–30% of the patients. We reviewed three patients who diagnosed Joubert syndrome and had done perioteneal dialysis due to end stage renal disease. All the patients were male and they followed in another outpatient clinic for mental motor retardation. All of them referred to our clinic for increased serum creatinine levels. Age of end stage renal disease were 8 years, 8 yearsand 9 years, respectively. They all have had peritoneal diaylsis after diagnosed with end stage renal disease. Cases diagnosed with Joubert syndrome can lead to end stage renal disease they need multidisiplinary approach is essential in their follow up and treatment.