From OMIMPKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000).
Genetic Heterogeneity of Polycystic Kidney Disease
Also see polycystic kidney disease-2 (PKD2; 613095), caused by mutation in the PKD2 gene (173910) on chromosome 4q22; PKD3 (600666), caused by mutation in the GANAB gene (104160) on chromosome 11q13; PKD4 (263200), caused by mutation in the PKHD1 gene (606702) on chromosome 6p12; PKD5 (617610), caused by mutation in the DZIP1L gene (617570) on chromosome 3q22; PKD6 (618061), caused by mutation in the DNAJB11 gene (611341) on chromosome 3q27; PKD7 (620056), caused by mutation in the ALG5 gene (604565) on chromosome 13q13; and PKD8 (620903), caused by mutation in the NEK8 gene (609799) on chromosome 17q11.
http://www.omim.org/entry/173900 From MedlinePlus GeneticsThe two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.
Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.
https://medlineplus.gov/genetics/condition/polycystic-kidney-disease