Objectives. Nephronophthisis (NPH) is the most common genetic cause of endstage renal disease (ESRD) in childhood and adolescence. Diagnosis is often late as it is difficult to suspect until complications of slowly decreasing renal function manifest. Treatment of NPHP is symptomatic until ESRD, then renal replacement therapy (RRT) is started. We report our centre’s experience with NPH diagnosis and results of kidney transplantation
Methods. Medical records of 22 patients diagnosed with juvenile NPH (by clinical findings or genetic tests) in our centre during 1990-2016 were analysed. Presentation of extrarenal symptoms, timing of diagnosis and ESRD, RRT and graft survival was evaluated.
Results. 14 boys and 8 girls were diagnosed with NPH at age 9.1±3.6 years, 3 diagnoses confirmed by genetic testing, extrarenal symptoms were identified for 5 patients. Average age of ESRD was 11.9±3.4 years. RRT was started for 20 patients with 2 pre-emptive renal transplantations performed. For 5 patients RRT was started during the first 4 months after diagnosing NPH. During 26 years (with an average of 16.2±7.5) of observafion 7 transplants were lost for six patients: 5 due to chronic graft nephropathy, 2 due to infection induced graft failure. Overall graft survival after 5, 10, 15 and 20 years was 90, 70, 70, 60 percent respectively. Disease recurrence after transplantation was not observed.
Conclusions. Diagnosis of NPH is often late. One fifth of patients manifest with extrarenal symptoms. Results of kidney transplantation are good, NPH recurrence after transplantation was not ob served.
