ESPN 50th Annual Meeting

ESPN 2017


 
Juvenile nephronophthisis: timing of diagnosis and results of kidney transplantation
NERINGA GIEDRAITE 1 RIMANTE CERKAUSKIENE 1 AUGUSTINA JANKAUSKIENE 1

1- VILNIUS UNIVERSITY, VILNIUS, LITHUANIA
 
Introduction:

Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood and adolescence. Diagnosis is often late as it is difficult to suspect until the complications of slowly decreasing renal function manifest. Treatment of NPH is symptomatic until ESRD, then renal replacement therapy (RRT) is started. We report our centre’s experience in timing of NPH diagnosis and results of kidney transplantation. 

Material and methods:

Medical records of 22 patients 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, three confirmed by genetic testing. Extrarenal symptoms were identified for 5 patients. Average age of ESRD were 11,9 (± 3,4) years. RRT was started for 20 patients, 2 pre-emptive transplantations performed. For 5 patients RRT was started during the first 4 months after diagnosis. During observation time 7 transplants were lost for 6 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% respectively. Disease recurrence after transplantation was not observed.

Conclusions:

Diagnosis of NPH was usually delayed for our patients with one fourth of them requiring RRT soon after the diagnosis. Renal graft function was preserved for long periods among transplant recipients, disease recurrence was not observed.