DOI: 10.17826/cumj.1892673 ISSN: 2602-3032

Peritoneal dialysis as an effective kidney replacement therapy in Joubert syndrome

Selin Hasırcı Karacan, Görkem Şahin, Nimet Şaşmaz Nurdağ, Bahriye Atmış, Aysun Karabay Bayazıt
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Kidney involvement in Joubert syndrome may lead to progressive kidney disease, making the choice of kidney replacement therapy clinically important. We aimed to present the feasibility and effectiveness of peritoneal dialysis in a child with genetically confirmed Joubert syndrome who developed stage 5 chronic kidney disease (CKD). A 10-year-old boy with genetically confirmed Joubert syndrome and progressive chronic kidney disease was retrospectively evaluated. Clinical features, laboratory findings, imaging results, and data related to the peritoneal dialysis course were reviewed. At presentation, the patient had biochemical findings consistent with CKD stage 4 and showed progressive deterioration in kidney function during follow-up. As no suitable living donor was available for transplantation, peritoneal dialysis was initiated. A catheter was placed using a laparoscopic approach, and the patient and family rapidly adapted to the treatment following structured training. During follow-up, dialysis adequacy was maintained, no complications occurred, and the patient’s quality of life remained stable. This case demonstrates that peritoneal dialysis is a safe, feasible, and effective kidney replacement therapy in children with Joubert syndrome. With appropriate patient selection and family education, peritoneal dialysis can be successfully maintained even in children with complex neurodevelopmental disorders.

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