ESPN 51th Annual Meeting

ESPN 2018


 
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE: A SINGLE CENTER EXPERIENCE
NESLIHAN CICEK 1 IBRAHIM GOKCE 1 MEHTAP SAK 1 NURDAN YILDIZ 1 HARIKA ALPAY 1

1- MARMARA UNIVERSITY MEDICAL SCHOOL, DEPARTMENT OF PEDIATRIC NEPHROLOGY, ISTANBUL, TURKEY
 
Introduction:

 

Autosomal recessive polycystic kidney disease(ARPKD) affects approximately 1 in 20 000 children and is an important cause of morbidity and mortality associated with kidney and liver  in children. More than 40% of patients progress to end-stage renal disease(ESRD) by 15 years of age. The phenotype of ARPKD, however, is quite variable: some patients progress to ESRD in infancy, whereas others may not require renal replacement therapy until later childhood and adolescence. A smaller subset present primarily with liver manifestations, typically in adolescence and young adulthood.

Material and methods:

 

We analyzed the medical records of the 16 patients with ARPKD followed in our pediatric nephrology department retrospectively. We evaluated estimated glomerular filtration rate(eGFR), urinary protein excretion, office blood pressure and liver function of the patients.

Results:

 

Nine patients(56.75%) were female and 7(45.25%) were male. The mean age and the mean follow up time were 7.6±4.91(0.52-17.24) and 4.81±3.8(0.23-16.11) years respectively. Seven patients(45.25%) were diagnosed antenatally and the mean age at diagnosis for other 9 patients was  1.9±2.61(0-6.3)  years. Liver disease was diagnosed in 5 patients(31.25%), hypertension in 5 patients(31.25%) and proteinuria in 1 patient(6.25%). The mean serum creatinine level was 1.17±1.24 mg/dl(0.21-4.32), eGFR is <90 ml/min/1.73 m2 in 6 patients(37.5%) and 3 of them are still on peritoneal dialysis. Kidney transplantation was performed for one patient and liver-kidney combined transplantation for another one. Both patients are followed with normal eGFR.

Conclusions:

 

The early diagnosis and treatment of of the complications, hypertension and proteinuria of the patients with ARPKD may help to decrease the mortality and morbidity which will lead to a successful kidney and if needed liver-kidney combined transplantation.