[Molecular basis of primary renal hyperuricemia : role of the human urate transporter hURAT1].

摘要: In highly industrialized countries hyperuricemia is one of the most common metabolic disorders. High uric acid blood levels may lead to manifestation gout owing precipitation urate crystals in connective tissue, skeletal system and kidneys. A primary reduction renal excretion can be detected more than 90% all cases hyperuricemia. Despite identification several transporting proteins their pathogenetic role for induction reduced has not yet been verified. As a result case-control study on individuals with normal excretion, an association polymorphisms human transporter 1 gene (hURAT1) demonstrated first time. The hURAT1 organic anion (SLC22A12), which preferentially expressed apical membrane proximal tubule cells. Functioning as antiporter, mediates uptake from lumen into cells exchange inorganic anions. Loss-of-function mutations are cause hereditary hypouricemia. precisely regulated candidate important target development optimization new diagnostic approaches pharmacological interventions excretion.