Pediatric Nephrology, Department of Pediatrics, Hospital Universitario Central de Asturias & University of Oviedo, Oviedo, Spain.
World J Pediatr. 2011 May;7(2):173-5. doi: 10.1007/s12519-010-0214-z. Epub 2010 Jun 12.
Primary hyperoxaluria type 1 is a rare disorder caused by a defect in the hepatic metabolism of glyoxylate. Cases presenting in infancy are very uncommon and often have a severe course leading to early end-stage renal failure.
We treated a case of early presentation of primary hyperoxaluria type 1 and reviewed the relevant literature.
A 4-month-old female infant was admitted to our hospital because of acute renal failure and nephrocalcinosis. Mutational analysis of alanine-glyoxylate aminotransferase gene revealed compound heterozygosity in the infant, confirming the development of primary hyperoxaluria type 1. A few weeks later, the condition of the infant worsened during an interdialytic period and died.
Interest of this case is based on the coexistence of two mutations of alanine-glyoxylate aminotransferase gene recently reported, and it confirms the severe course of the disease when it presents in infancy. It also highlights the importance of the association of nephrocalcinosis and urolithiasis as key diagnostic manifestations of primary hyperoxaluria type 1.
1 型原发性高草酸尿症是一种由乙醛酸代谢缺陷引起的罕见疾病。在婴儿期发病的病例非常罕见，且常呈严重病程，导致早期终末期肾衰竭。
我们治疗了一例早发型 1 型原发性高草酸尿症，并复习了相关文献。
一名 4 月龄女性婴儿因急性肾衰竭和肾钙质沉着症而入院。丙氨酸-乙醛酸氨基转移酶基因突变分析显示，婴儿存在复合杂合突变，确诊为 1 型原发性高草酸尿症。数周后，婴儿在透析间期病情恶化，死亡。
该病例的意义在于存在最近报道的两种丙氨酸-乙醛酸氨基转移酶基因突变，且证实了婴儿期发病时疾病的严重病程。还强调了肾钙质沉着症和尿路结石的合并存在作为 1 型原发性高草酸尿症的关键诊断表现的重要性。
