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P97 An uncommon reason of end stage renal disease: 3 cases with joubert syndrome and renal failure
  1. Aysun Karabay Bayazit1,
  2. Bahriye Atmiş1,
  3. Engin Melek1,
  4. Abdulsamet Ala2,
  5. Merve Sapmaz2,
  6. Sakir Altunbasak3,
  7. Ali Anarat1
  1. 1Cukurova University, Department of Paediatric Nephrology
  2. 2Cukurova University, Department of Paediatrics
  3. 3Cukurova University, Department of Neurology

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.

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