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What Is ARPKD/CHF?

Brief Overview:
Autosomal Recessive Polycystic Kidney Disease (ARPKD) 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, i.e. Finnish and Afrikaaner.) It is a chronic and progressive disease that causes eventual kidney failure and liver abnormalities, hence 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% are diagnosed prenatally.

There is no cure and early newborn death occurs up to 50% of the time, most often not from kidney failure, but from pulmonary hypoplasia (underdeveloped lungs).  If ventilatory support is offered and the newborn period is survived, then the chances of survival increase to good. There is potential for an excellent quality lifestyle with medical management.

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 ARPKD/CHF Alliance
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