Genetic factors associated with gout and hyperuricemia.
Hyperuricemia and gout are common conditions that have long been known to have a heritable component. Obesity, diabetes, and chronic kidney failure are conditions with multifactorial inheritance that are associated with gout. In addition, social factors such as protein and alcohol intake affect serum uric acid levels. The current review discusses basic uric acid metabolism and the multigenetic inheritance of hyperuricemia. Several monogenic disorders affecting uric acid metabolism are reviewed. The genetics, pathophysiology, diagnosis, and treatment of familial juvenile hyperuricemic nephropathy/medullary cystic kidney disease, autosomal dominant disorders associated with hyperuricemia and progressive kidney failure, are described.
Bleyer
Anthony J
AJ
Department of Internal Medicine, Section on Nephrology, The Wake Forest University School of Medicine, Winston-Salem, NC 27157-1053, USA. ableyer@wfubmc.edu
Hart
Thomas C
TC
D001789:Blood Group Antigens; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006073:Gout / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D033461:Hyperuricemia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D009088:Mucoproteins / Q000652:urine; D009154:Mutation; D051437:Renal Insufficiency / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D012307:Risk Factors; D014503:Urate Oxidase / Q000235:genetics / Q000378:metabolism; D014527:Uric Acid / Q000097:blood; D058949:Uromodulin
D001789:Blood Group Antigens; D005819:Genetic Markers; D009088:Mucoproteins; C548612:UMOD protein, human; D058949:Uromodulin; D014527:Uric Acid; D014503:Urate Oxidase