Research Information System
CLINICAL AND EXPERIMENTAL NEPHROLOGY, 2025 (SCI-Expanded, Scopus)
BackgroundThe phenotype of autosomal recessive polycystic kidney disease (ARPKD) can be quite variable: some patients progress to end-stage kidney disease (ESKD) in infancy, while others may not require kidney replacement therapy (KRT) until later childhood or adolescence. This study aimed to evaluate clinical, biochemical, imaging, and genetic findings that may influence kidney prognosis in pediatric patients with ARPKD.MethodsThe patients diagnosed before birth or in the first month were classified as perinatal presenters and later than 1 month as non-perinatal presenters. Additionally, groups were formed based on estimated glomerular filtration rate (eGFR) at the last visit and variant types.ResultsSeventeen patients (8 male, 9 female) were enrolled in the study. Kidney survival rates at 5 years was 71.4% in the perinatal group, whereas it was 100% in the non-perinatal group. The early height-adjusted kidney dimension (haKD) was positively correlated with perinatal presentation and antenatal diagnosis. At the last follow-up, the mean eGFR was significantly lower in the truncating group with four patients (23.5%) progressing to stage-5 chronic kidney disease (CKD).ConclusionsThe kidney survival rate is lower in patients with early presentation. Initial low eGFR and severe variants are important predictors of kidney survival. Additionally, early high haKD may be associated with poor kidney outcome. Further studies with larger patient populations and long-term follow-up are necessary to better understand the prognosis of pediatric patients with ARPKD.