The following article includes diagnosis findings, cause, prognosis, newborn care, arpkd/chf features, portal hypertension, and clinical considerations. This information does not substitute for medical care; the place for disease specifics and care is with your doctor.
Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Congenital Hepatic Fibrosis is a rare genetic disorder that affects approximately 1:6,000 to 1:40,000 persons in the general population, depending on the source of reference. There is a higher incidence in certain populations including the Finnish and Afrikaaner. ARPKD is a chronic progressive disease that results in kidney failure and liver abnormalities that includes fibrosis, hence the term Congenital Hepatic Fibrosis (CHF). It is neither contagious, nor affects intelligence. CHF has the potential to cause severe clinical liver complications. The age spectrum for onset of symptoms is from birth to adolescence, seldom adulthood. ARPKD is commonly diagnosed early in life; approximately 50% of cases are diagnosed prenatally.
There is no cure and neonatal death occurs in up to 50% of cases. Death is not from kidney failure, but from pulmonary hypoplasia (underdeveloped lungs) that is secondary to oligohydramnios (decreased amount of amniotic fluid). Ventilatory support may help the infant survive the newborn period after which, the chances of long-term survival improve substantially. There is potential for an excellent quality lifestyle with medical management.