Polycystic Kidney Diseases

calbc-group:ANAT, calbc-group:CHEM, calbc-group:CONC, calbc-group:DISO, calbc-group:GENE, calbc-group:PHEN, calbc-group:PHYS, calbc-group:PROC

CSP: hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed cysts within the kidney; there is an autosomal recessive form appearing in childhood and a later appearing autosomal dominant form; a similar acquired disease sometimes accompanies end-stage renal disease.,NCI: A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromos

umls-concept:C0019247, umls-concept:C0022679, umls-concept:C0543793

umls-label:A6995561

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