Original article
Genetic Factors Associated With Gout and Hyperuricemia

https://doi.org/10.1053/j.ackd.2006.01.008Get rights and content

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.

Index Words

Genetics
Gout
Hyperuricemia
Medullary cystic kidney disease
Uromodulin
Familial juvenile hyperuricemic nephropathy

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Supported by US Public Health Service research grant DK62252 from the National Institute of Diabetes and Digestive and Kidney Diseases. The authors have a licensing agreement with Athena Diagnostics for uromodulin mutation testing.

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