GOUTY DIATHESIS--PATHOPHYSIOLOGY AND MOLECULAR GENETIC BASIS

描述：（直接取自应用程序）尿酸代谢紊乱已被证明可导致尿酸和钙结石的发展。此外，原发性痛风常与尿酸结石合并，其中，由于产生缺陷的铵而导致的尿液pH值过高被认为会促进尿酸结晶。我们使用术语痛风素质来描述与原发性痛风相关的结石形成，它由获得性和原发性（遗传）变异组成。这一假设将通过以下方式得到验证：(1)评估痛风素质中的氨生成缺陷是否通过控制酸摄入和施加磷酸盐限制而明显存在，以及在该病的获得性形式中，胰岛素抵抗是导致该病过度酸性和其他生化特征的原因，以及(2)确定该病的“初级”遗传形式中的分子缺陷。这些研究将有助于阐明痛风素质的病理生理学，并可能导致这种形式的尿石症的诊断和治疗的改进。

Description: (Taken directly from the application) A disturbance in urate metabolism has been shown to lead to the development of both uric acid and calcium stones. In addition, primary gout is frequently observed with uric acid lithiasis, where undue urinary pH from defective ammonium production is believed to promote uric acid crystallization. We have used the term gouty diathesis to describe stone formation associate with primary gout, and that it is comprised of acquired and primary (genetic) variants. This hypothesis will be tested by (1) assessing whether defective ammonium production in gouty diathesis is evident by controlling acid intake and imposing phosphate restriction and that, in the acquired form of the disease, insulin resistance is responsible for undue acidity and other biochemical features of this disease, and (2) identifying the molecular defect in the "primary" genetic form of the disease. These studies will help elucidate the pathophysiology of gouty diathesis and may lead to improvements in the diagnosis and treatment of this form of urolithiasis.