Polycystic Kidney Disease (PKD), also called Potter syndrome or Perlman syndrome, is a genetic disorder, which can be divided into Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD). ARPKD can be diagnosed typically in the first few weeks after birth and the children are usually unable to live out their childhood. So we mainly talk about ADPKD here.
Causing genes
The Autosomal Dominant Polycystic Kidney Disease is caused by two genes: ADPKD1 and ADPKD2. ADPKD1 lies in the short arm of chromosome 16, while ADPKD2 is located on the short arm of chromosome 4. As is reported, patients with ADPKD2, especially the female patients, tend to have less severe ill conditions than patients with ADPKD1. The signs or symptoms of ADPKD1 like kidney function declining or renal failure may appear later than that of people with ADPKD2. ADPKD2 is responsible for 90% cases of Autosomal Dominant Polycystic Kidney Disease. With autosomal dominant inheritance, there is a 50% chance that the disease will pass to the children of one patient with PKD.
The general course
Patients are born with cysts which are too small to check out. At their twenties, cysts usually have began to grow but without any visible or perceptible symptoms. When patients reach their thirties or forties, cysts in their kidneys will get bigger shapely. Blood pressure becomes slightly high among those patients, which can further speed up the deterioration of PKD. After about ten years of high blood pressure, namely at their forties, patients will have the tumid cysts and severe symptoms occur such as hemature, proteinuria and flank pain. The renal function begins to fail. After the age of fifties, PKD will cause real insufficiency or renal failure as well as cysts in liver and other organs. The severe complications will also occur such as cerebral aneurysm and heart diseases, which take the main responsibility for the death of patients with PKD.
Clinical symptoms
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