Autosomal Recessive (Infantile) Polycystic Kidney Disease

Introduction

Autosomal recessive polycystic kidney disease (ARPKD) is a chronic, progressive condition that affects the kidneys and liver, causing cystic dilatation of the renal collecting ducts and congenital hepatic fibrosis (CHF), or Caroli disease. ARPKD is also called infantile polycystic kidney disease and ARPKD/CHF. ARPKD is caused by mutations of a large, complex gene, PKHD1, and it has an unusually wide spectrum of phenotypic variability. Diagnosis is made prenatally or soon after birth in approximately 30% of patients, and neonatal mortality from pulmonary hypoplasia occurs in approximately 15% of cases—up to half of cases with prenatal diagnosis. Among children who survive infancy, morbidity is determined by the degree of renal insufficiency, with current 5-year and 10-year survival rates between 80% and 90%. Some individuals do not come to medical attention until later in childhood or adulthood and have both renal and hepatic manifestations, including early-onset hypertension, renal failure, portal hypertension, and recurrent cholangitis. The varying phenotypic manifestations of ARPKD can pose unique challenges from the standpoint of prenatal diagnosis, particularly in absence of an informative family history.

Disorder