Late diagnosis of primary hyperoxaluria after failed kidney transplantation
Late diagnosis of primary hyperoxaluria after failed kidney transplantation
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DOI：
10.1007/s11255-009-9690-2
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发表时间：
2010-09-01
影响因子：
2
通讯作者：
Tasic, Velibor
中科院分区：
文献类型：
--
作者：
Spasovski, Goce;Beck, Bodo B.;Tasic, Velibor
原发性高草酸尿症1型(PH1)是一种罕见的常染色体隐性遗传的乙醛代谢先天错误，其基础是肝脏特异性过氧化物酶丙氨酸：乙醛转氨酶的缺失、缺陷或错误定位。高草酸尿会导致结石和/或肾脏钙质沉着的反复形成，通常是早期终末期肾病(ESRD)，并伴有全身性草酸钙晶体沉积。在这篇报告中，我们描述了一位成年女性患者，在发生终末期肾病之前只有一个结石通道。由于诊断不明的PH，患者接受了孤立的肾移植，并出现移植肾衰竭的早期症状。虽然最初被认为是急性排斥反应，但活检发现了草酸钙结晶，这引发了人们对原发性高草酸尿症的怀疑。后来通过高草酸尿症、血浆草酸水平升高和AGXT基因突变证实了这一诊断，显示患者是c.33_34InsC和c.508G>；A突变的复合杂合子。大剂量吡哆醇治疗后，血浆草酸水平未见下降。根据这一病例报告，我们建议在所有患者中，即使有轻微的肾结石病史，但进展为慢性肾功能衰竭，在考虑隔离肾移植之前，也要排除原发性高草酸尿。
Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive inborn error of the glyoxylate metabolism that is based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase. Hyperoxaluria leads to recurrent formation of calculi and/or nephrocalcinosis and often early end-stage renal disease (ESRD) accompanied by systemic calcium oxalate crystal deposition. In this report, we describe an adult female patient with only one stone passage before development of ESRD. With unknown diagnosis of PH, the patient received an isolated kidney graft and developed an early onset of graft failure. Although initially presumed as an acute rejection, the biopsy revealed calcium oxalate crystals, which then raised a suspicion of primary hyperoxaluria. The diagnosis was later confirmed by hyperoxaluria, elevated plasma oxalate levels and mutation of the AGXT gene, showing the patient to be compound heterozygous for the c. 33_34InsC and c.508G > A mutations. Plasma oxalate levels did not decrease after high-dose pyridoxine treatment. Based on this case report, we would recommend in all patients even with a minor history of nephrolithiasis but progression to chronic renal failure to exclude primary hyperoxaluria before isolated kidney transplantation is considered.