Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)
M Adeva, M El-Youssef, S Rossetti, PS Kamath… - Medicine, 2006 - journals.lww.com
The autosomal recessive form of polycystic kidney disease (ARPKD) is generally considered
an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys
detected in utero or within the neonatal period, often resulting in neonatal demise. However,
there is an increasing realization that survivors often thrive into adulthood with complications
of the ductal plate malformation, manifesting as congenital hepatic fibrosis and Caroli
disease, becoming prominent. Previous natural history studies have concentrated almost …
an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys
detected in utero or within the neonatal period, often resulting in neonatal demise. However,
there is an increasing realization that survivors often thrive into adulthood with complications
of the ductal plate malformation, manifesting as congenital hepatic fibrosis and Caroli
disease, becoming prominent. Previous natural history studies have concentrated almost …