Latta K, Brodehl J
Kinderklinik der Medizinischen Hochschule, Abteilung für pädiatrische Nephrologie und Stoffwechselkrankheiten, Hannover, Federal Republic of Germany.
Eur J Pediatr. 1990 May;149(8):518-22. doi: 10.1007/BF01957682.
Primary hyperoxaluria type I is a metabolic disorder caused by the deficiency of the peroxisomal alanine:glyoxylate aminotransferase. The disease is inherited as an autosomal recessive trait. The clinical course is outlined based on data from 330 published cases. Diagnostic cornerstones are clinical parameters, urinary excretion of oxalate and glycolate, and the determination of enzyme activity in liver tissue. Principles of conservative treatment, e.g. volume load and pyridoxine substitution, are described as well as experience with different modes of dialysis and transplantation. Kidney transplantation is associated with a high rate of recurrence of the original disease despite excellent management resulting in many instances in early graft loss. Liver transplantation offers the possibility to correct the metabolic defect and to prevent the progression of crystal deposition in the body.
I型原发性高草酸尿症是一种由过氧化物酶体丙氨酸：乙醛酸氨基转移酶缺乏引起的代谢紊乱疾病。该疾病以常染色体隐性特征遗传。根据330例已发表病例的数据概述了其临床病程。诊断的关键依据是临床参数、尿液中草酸盐和乙醇酸盐的排泄情况以及肝组织中酶活性的测定。文中描述了保守治疗的原则，如容量负荷和维生素B6替代疗法，以及不同透析和移植方式的经验。尽管管理出色，但肾移植仍伴随着原发病的高复发率，在许多情况下导致早期移植肾丢失。肝移植为纠正代谢缺陷和防止体内晶体沉积的进展提供了可能。
