Autosomal Recessive Polycystic Kidney Disease: Clinical Features

Autosomal Recessive Polycystic Kidney Disease (ARPKD) - Clinical Features: (continued from the previous image). The kidneys are massively enlarged but often non-functioning and lead to oligohydroamnios due to low urine output. Enlarged kidneys reduce caliber of thoracic cavity which impedes normal development of lungs causing pulmonary hypoplasia and respiratory distress. Soon after birth, serum BUN and creatinine begin to rise. Almost 50% of affected newborns die of respiratory failure, uremia, or sepsis within the first few days of life. Those who survive the neonatal period develop end-stage renal disease by the age of 18-20 years. Most cases of ARPKD have some degree of congenital hepatic fibrosis. Patients with severe ARPKD who die in the perinatal/neonatal period show massive, symmetrically enlarged kidneys and severe pulmonary hypoplasia at autopsy (as shown in this photo).