Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment
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DOI：
10.1093/ndt/gfs078
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发表时间：
2012-05-01
影响因子：
6.1
通讯作者：
van Woerden, Christiaan S.
中科院分区：
文献类型：
--
作者：
Cochat, Pierre;Hulton, Sally-Anne;van Woerden, Christiaan S.
原发性高尿酸1型是一种罕见的常染色体隐性遗传乙醛酸代谢缺陷，由肝脏特异性酶丙氨酸：乙醛酸转氨酶缺乏引起。这种疾病导致草酸盐的过量产生和尿排泄，引起复发性尿石症和肾钙质沉着症。随着肾小球滤过率下降，由于进行性肾脏受累，草酸盐积累，导致全身性草酸盐中毒。诊断是基于临床和超声检查结果，尿草酸评估，酶学和/或DNA分析。早期开始保守治疗（高液体摄入、吡哆醇、草酸钙结晶抑制剂）旨在维持肾功能。在慢性肾脏病4期和5期，迄今为止最好的结果是肝肾联合移植。
Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine: glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading to systemic oxalosis. The diagnosis is based on clinical and sonographic findings, urine oxalate assessment, enzymology and/or DNA analysis. Early initiation of conservative treatment (high fluid intake, pyridoxine, inhibitors of calcium oxalate crystallization) aims at maintaining renal function. In chronic kidney disease Stages 4 and 5, the best outcomes to date were achieved with combined liver-kidney transplantation.