Autosomal Recessive Polycystic Kidney: Introduction

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease of kidney caused by mutations in PKHD1 gene on chromosome 6 that encodes fibrocystin (polyductin). Kidneys show fusiform dilation of collecting ducts resulting in innumerable small cysts. There is some degree of bile duct plate abnormalities leading to congenital hepatic fibrosis. ARPKD is usually seen in infants and was previously called infantile or childhood polycystic kidney disease. Infrequently, it can manifest in adolescents and young adults. The perinatal and neonatal forms are most common and often associated with serious renal insufficiency and pulmonary hypoplasia leading to death soon after birth. Image courtesy of Dr. Jean-Christophe Fournet, Paris, France; humpath.com; Used with permission.