Kidney Transplant in Joubert Syndrome: A Human-Centered Case Series From a Single Center.

Abstract

Objectives: Joubert syndrome is a rare ciliopathy in which kidney disease can quietly progress to end -stage kidney disease, often in children and young adults. For these patients and their families, kidney transplant is a turning point, yet published experience remains limited. Here, we share our center's experience with kidney transplant in 5 patients with Joubert syndrome who progressed to end -stage kidney disease, highlighting medical outcomes and practical challenges.

Materials and methods: We conducted a retrospective case series of 5 patients with Joubert syndrome and end -stage kidney disease who received kidney transplants at our center. We reviewed medical records for demographic data, neurological and extrarenal features, renal course, transplant details, immunosuppression, complications, and long -term graft and patient outcomes.

Results: The cohort included 3 male and 2 female patients who received transplants between 12 and 40 years of age. Two patients had genetically confirmed Joubert syndrome, and 3 patients had a clinical diagnosis. Nephronophthisis was the documented cause of end -stage kidney disease in 2 children, whereas 3 patients had end -stage kidney disease attributed to Joubert syndrome without further histology classification. All patients received calcineurin inhibitor -based triple immunosuppression. Delayed graft function occurred in all 5 recipients. Two patients developed biopsy -proven T -cell -mediated acute rejection, successfully treated with pulse steroids. At last follow -up, 3 patients were alive with functional grafts, 1 patient was alive on dialysis after graft loss due to chronic pyelonephritis, and 1 patient died from severe infection with a functional graft.

Conclusions: Kidney transplant is feasible and generally effective in patients with Joubert syndrome, offering durable renal replacement in most cases. However, the universal occurrence of delayed graft function and the effect of infectious complications, which led to 1 graft loss and 1 death, emphasize the need for careful perioperative management, urological assessment, and close long -term follow -up within a multidisciplinary framework.