|
|
|
|
||||
At least 1 in 1,000 people have inherited Polycystic Kidney disease (PKD). The underlying fault in PKD is not confined to the kidneys, but they are the organs that show the most obvious changes. The kidney tubules in part expand into many balloon-like cysts containing filtered fluid. These cysts gradually increase in size and number, pressing on the surrounding kidney tissue, damaging it.
Cysts may also develop in the liver and pancreas. However, they usually cause relatively little trouble in these organs. The damage to the kidneys is progressive and affects their ability to maintain water and chemical balance, excrete waste products and control the blood pressure. The conditions almost always affect both kidneys equally.
Other than some loin discomfort and occasional pain most individuals with PKD have relatively few problems in the first twenty to thirty years of life. Symptoms of PKD include:
Complete kidney failure develops in forty to fifty per cent of affected individuals by the age of sixty years.
A rare complication of PKD is the development of weaknesses in the walls of the arteries that lie just under the brain and supply it with blood. This occurs in about ten per cent of PKD patients. These areas of weakness can form fragile, balloon-like pouches (aneurysms) that may press on surrounding nerves or actually rupture, causing a stroke. It is thought that this complication may run in families.
Inheritance patterns
Autosomal dominant.
Prenatal diagnosis
For adult polycystic kidney disease, two genes have been identified. These are PKD1 (eighty-five per cent of cases), and PKD2 (fifteen per cent of cases). Mutation analysis is not widely available, and testing is technically difficult. Prenatal diagnosis is possible using a technique known as ‘linkage analysis’, usually in specialised genetic centres. However, the clinical variability of ADPKD, even within families means that demand for prenatal diagnosis is low.
Background
| Autosomal Recessive Polycystic Kidney disease (ARPKD) 
Donate Now
makingcontact.org
Pounds for parents
Subscribe to the 