Primary hyperoxaluria
Primary hyperoxaluria
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DOI：
10.1016/j.nephro.2011.03.004
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发表时间：
2011-07-01
影响因子：
0.7
通讯作者：
Harambat, Jerome
中科院分区：
文献类型：
--
作者：
Cochat, Pierre;Fargue, Sonia;Harambat, Jerome
原发性高尿酸症是一种罕见的隐性遗传性乙醛酸代谢缺陷。它们导致进行性肾脏受累，进一步导致全身性草酸盐沉积，甚至可能发生在婴儿中。原发性高尿酸1型是欧洲最常见的形式，是由于丙氨酸-乙醛酸氨基转移酶缺乏，一种肝过氧化物酶体吡啶氧合酶依赖性酶。因此，原发性高尿酸1型是高尿酸导致侵略性结石形成和肾钙质沉着症的原因。随着肾小球滤过率的降低，全身草酸盐储存发生在全身，主要在骨骼中。诊断首先基于尿草酸盐测量，然后基于基因分型，这也可以允许提出产前诊断。保守措施-包括水化，结晶抑制剂和吡哆醇-是安全的，并可能允许长期持久的肾存活，只要它是尽快给予诊断，甚至怀疑。没有任何透析程序可以清除足够的草酸盐来补偿患病肝脏中草酸盐的过量产生，因此，在晚期肾脏疾病发生之前，应计划进行肝肾联合移植，以限制/避免全身草酸盐沉积。在未来，原发性高尿酸血症1型可能受益于肝细胞移植，伴侣分子等（C）2011年协会德肾病。由Elsevier Masson SAS出版。All rights reserved.
Primary hyperoxalurias are rare recessive inherited inborn errors of glyoxylate metabolism. They are responsible for progressive renal involvement, which further lead to systemic oxalate deposition, which can even occur in infants. Primary hyperoxaluria type 1 is the most common form in Europe and is due to alanine-glyoxylate aminostransferase deficiency, a hepatic peroxisomal pyridoxin-dependent enzyme. Therefore primary hyperoxaluria type 1 is responsible for hyperoxaluria leading to aggressive stone formation and nephrocalcinosis. As glomerular filtration rate decreases, systemic oxalate storage occurs throughout all the body, and mainly in the skeleton. The diagnosis is first based on urine oxalate measurement, then on genotyping, which may also allow prenatal diagnosis to be proposed. Conservative measures - including hydration, crystallization inhibitors and pyridoxine - are safe and may allow long lasting renal survival, provided it is given as soon as the diagnosis has been even suspected. No dialysis procedure can remove enough oxalate to compensate oxalate overproduction from the sick liver, therefore a combined liver and kidney transplantation should be planned before advanced renal disease has occurred, in order to limit/avoid systemic oxalate deposition. In the future, primary hyperoxaluria type 1 may benefit from hepatocyte transplantation, chaperone molecules, etc. (C) 2011 Association Societe de nephrologie. Published by Elsevier Masson SAS. All rights reserved.