|
|
|
|
||||
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is an inherited kidney condition where children have enlarged kidneys with or without cysts, often with liver enlargement and high blood pressure. There is often progressive scaring of the bile ducts, which is called Congenital Hepatic Fibrosis (CHF). Almost all children with ARPKD are diagnosed during infancy or childhood, but the first signs of the disease are variable.
About half of infants with ARPKD die at birth or shortly thereafter, primarily as the result of underdeveloped lungs because the kidneys often reach quite a large size which prevents the lungs from growing normally. Survival is possible and the prognosis is much better for babies that survive the new born period. If supported, which often involves mechanical ventilation until babies are able to breath on their own, the five year survival rate may be as high as eighty to ninety-five per cent.
High blood pressure is a very common complication and is one factor thought to be important in the progression of the kidney disease, and subsequent kidney failure, which many of these children develop within a few months or years of life.
A small proportion of children with ARPKD do appear to be perfectly normal until later childhood or adolescence. This particular group primarily have liver involvement with enlarged livers and relatively small kidneys.
Inheritance patterns
Autosomal recessive. In ADPKD, the features of the condition when inherited by children only manifest themselves in adulthood.
Prenatal diagnosis
For ARPKD there is one gene, but mutation analysis is not widely available. Linkage analysis can be used for prenatal testing, usually in specialised centres.
Autosomal Dominant Polycystic Kidney disease (ADPKD)
| Is there support? 
Donate Now
makingcontact.org
Pounds for parents
Subscribe to the 