|Terms & Properties|
Concept Unique Identifier (CUI): C0022680
NCI Thesaurus Code: C75464 (see NCI Thesaurus info)
Semantic Type: Congenital Abnormality
Semantic Type: Disease or Syndrome
NCIt Definition: 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 chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
GARD Definition: Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the 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. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms.
The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance:
(1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause.
(2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood. - this information is from GARD/ORDR/NCATS.
HPO Definition: The presence of multiple cysts in both kidneys. [HPO:probinson]
NICHD Definition: An inherited form of kidney disease characterized by multiple renal cysts.
CSP Definition: 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.
MSH Definition: Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.
Synonyms & Abbreviations: (see Synonym Details)
|Disease, Polycystic Kidney|
|Disease, Polycystic Renal|
|Diseases, Polycystic Kidney|
|Diseases, Polycystic Renal|
|Fibrocystic Renal Disease|
|Kidney Disease, Polycystic|
|Kidney Diseases, Polycystic|
|KIDNEY, POLYCYSTIC DISEASE|
|PCK - Polycystic kidney disease|
|PKD - Polycystic Kidney Disease|
|Polycystic Kidney Diseases [Disease/Finding]|
|Polycystic Kidney Diseases|
|Polycystic kidney disease|
|POLYCYSTIC KIDNEY DIS|
|Polycystic kidney dysplasia|
|Polycystic kidney NOS|
|Polycystic kidney, unspecified type|
|Polycystic kidney, unspecified|
|Polycystic Renal Diseases|
|Polycystic Renal Disease|
|Renal Disease, Polycystic|
|Renal Diseases, Polycystic|
External Source Codes:
|NCI Thesaurus Code||C75464 (see NCI Thesaurus info)|
|AN||KIDNEY, CYSTIC and MULTICYSTIC DYSPLASTIC KIDNEY are also available; prefer specifics||MSH|
|AQL||BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI||MSH|
|HPO_COMMENT||Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys.||HPO|
|MESH_DEFINITION||Hereditary diseases that are characterized by the progressive expansion of a large number of tightly packed CYSTS within the KIDNEYS. They include diseases with autosomal dominant and autosomal recessive inheritance.||NDFRT|
|MESH_NAME||Polycystic Kidney Diseases||NDFRT|
|NICHD_Hierarchy_Term||Polycystic Kidney Disease||NCI|
|PM||1991; see POLYCYSTIC KIDNEY 1991-2000||MSH|
Additional Concept Data: (none)