Autosomal Recessive Polycystic Kidney Disease
Also written as: ARPKD — Autosomal Recessive Polycystic Kidney Disease
A rare genetic disorder causing cystic kidney disease and liver abnormalities, typically manifesting in infancy or childhood.
Full Definition
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare inherited disorder caused by mutations in the PKHD1 gene, affecting approximately 1 in 20,000 births. The condition is characterized by bilateral enlarged kidneys with numerous small cysts and invariable liver involvement with congenital hepatic fibrosis. Clinical presentation ranges from severe perinatal disease with oligohydramnios and Potter sequence to milder forms presenting in childhood with hypertension and progressive kidney dysfunction. Unlike autosomal dominant polycystic kidney disease, ARPKD typically presents earlier in life and has a more predictable inheritance pattern requiring both parents to be carriers.
Usage
Usage note: Distinguish clearly from ADPKD (autosomal dominant form) which has different inheritance patterns and clinical course.
In Context
- "Prenatal ultrasound showing enlarged echogenic kidneys raised concern for autosomal recessive polycystic kidney disease." — Maternal-fetal medicine consultation
- "Genetic counseling was provided given the 25% recurrence risk for ARPKD in future pregnancies." — Genetics clinic note