ARPKD
Also written as: ARPKD — Autosomal Recessive Polycystic Kidney Disease
Autosomal recessive polycystic kidney disease, a hereditary cystic kidney disorder typically presenting in infancy with enlarged kidneys and liver fibrosis.
Full Definition
Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder caused by mutations in the PKHD1 gene, characterized by bilateral kidney enlargement with radially oriented cysts and congenital hepatic fibrosis. Unlike autosomal dominant polycystic kidney disease, ARPKD typically presents in the perinatal period or early infancy with massively enlarged kidneys that may cause oligohydramnios and pulmonary hypoplasia. Affected children often develop hypertension early and may progress to end-stage renal disease in childhood or adolescence. The hepatic component involves portal fibrosis and may lead to portal hypertension with splenomegaly and esophageal varices. Diagnosis is usually made by prenatal ultrasound or postnatal imaging showing characteristic bilateral nephromegaly with increased echogenicity.
Usage
Usage note: Distinguish clearly from ADPKD which typically presents in adulthood; ARPKD has much earlier and more severe presentation.
In Context
- "Prenatal ultrasound at 32 weeks showed findings consistent with ARPKD including severe bilateral nephromegaly." — Maternal-fetal medicine report
- "The neonate with ARPKD required immediate ventilatory support due to pulmonary hypoplasia." — Neonatal intensive care note