KIDNEY INTERNATIONAL REPORTS, vol.7, no.7, pp.1643-1652, 2022 (SCI-Expanded)
Article / Article
KIDNEY INTERNATIONAL REPORTS
Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
ARPKD, Ciliopathies, DZIP1L, Fibrocystin, PKD, PKHD1, CONGENITAL HEPATIC-FIBROSIS, RENAL-TRANSPLANTATION, CLINICAL-EXPERIENCE, PRENATAL-DIAGNOSIS, CHILDREN, ARPKD, MUTATIONS, GENETICS, LIVER
Istanbul University Affiliated:
Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood.