The primary hyperoxalurias.
The primary hyperoxalurias.
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DOI：
10.1038/ki.2009.32
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发表时间：
2009-06
影响因子：
19.6
通讯作者：
Milliner DS
中科院分区：
文献类型：
--
作者：
Hoppe B;Beck BB;Milliner DS
原发性高尿酸血症是一种罕见的乙醛酸代谢紊乱，其中特定的肝酶缺乏导致草酸盐过量产生。由于导致严重的高尿酸血症，复发性尿石症或进行性肾钙质沉着症是主要表现。终末期肾功能衰竭经常发生，随后是全身性草酸盐沉积及其破坏性影响。由于缺乏对原发性高尿酸血症的熟悉和其异质性的临床表现，诊断往往被延迟，直到有进展的疾病。近年来，医疗管理的改善与更好的患者结局相关。虽然有几种治疗方法可以帮助预防早期肾功能衰竭，但迄今为止唯一的治愈性治疗方法是I型原发性高尿酸患者的肝肾联合移植。正在确定有希望的调查领域。了解疾病表现谱、早期诊断和在肾衰竭发作前开始治疗对患者获益至关重要。
The primary hyperoxalurias are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are the principal manifestations. End stage renal failure occurs frequently and is followed by systemic oxalate deposition with its devastating effects. Due to lack of familiarity with the primary hyperoxalurias and their heterogeneous clinical expression, the diagnosis is often delayed until there is advanced disease. In recent years, improvements in medical management have been associated with better patient outcomes. Though there are several therapeutic options that can help to prevent early kidney failure, to date the only curative treatment is combined liver-kidney transplantation in those patients with type I primary hyperoxaluria. Promising areas of investigation are being identified. Knowledge of the spectrum of disease expression, early diagnosis, and initiation of treatment before renal failure ensues are essential to realize a benefit for patients.