Autosomal Dominant Polycystic Kidney Disease (ADPKD)
With a prevalence of 1:1000, autosomal dominant polycystic kidney disease is one of the most common monogenetic diseases. The disease is characterized by bilateral renal cysts, which increase in number and in size as the disease progresses and may lead to slow progressive renal failure, arterial hypertonia, and pain in the area of the kidneys. Cysts may also develop in other organs such as the liver, pancreas, seminal vesicles, or arachnoids); however, these cysts normally do not affect organ function. Furthermore, affected patients show frequent vascular abnormalities such as intracranial aneurysms, aortic root dilation, dissection, or mitral valve prolapse.
The pattern of inheritance is autosomal dominant. In 95 % of cases, one parent is also affected; the remaining 5 % are the result of de novo mutations. Pathogenic mutations in the genes PKD1 and PKD2 are the cause of ADPKD, whereby cyst growth usually begins earlier and the progression is more severe in cases of PKD1 mutations. In nearly 10 % of patients affected by ADPKD, no causative mutations in the genes PKD1 or PKD2 are found.