Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient
Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient
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DOI：
10.1093/ndt/gfg562
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发表时间：
2004-03-01
影响因子：
6.1
通讯作者：
Simmonds, HA
中科院分区：
文献类型：
--
作者：
Cassidy, MJD;McCulloch, T;Simmonds, HA
腺嘌呤磷酸核糖转移酶（APRT）缺乏症是一种罕见的先天性代谢缺陷，于1976年在英国首次描述[1]。它是一种常染色体隐性遗传性状，基因位于16号染色体上。APRT是一种补救酶，通常使用PP-核糖-P催化腺嘌呤转化为腺嘌呤一磷酸。缺乏导致腺嘌呤积累，转化为尿中的2，8-二羟基腺嘌呤（2，8-DHA）并排泄。2，8-DHA在血浆中与蛋白质结合，但在任何pH下在尿液中极不溶。管状晶体沉积可与显著的间质纤维化和/或尿石症相关。自其最初的描述以来，APRT缺乏已被越来越多地认为是慢性肾衰竭的原因。我们报告一例肾移植后诊断为APRT缺乏症。这导致了对患者的特定治疗，以降低移植肾中进一步晶体和结石形成的风险。此外，通过家庭筛查还发现了其他患有这种疾病的家庭成员。
Adenine phosphoribosyltransferase (APRT) deficiency is a rare inborn error of metabolism first described in the UK in 1976 [1]. It is inherited as an autosomal recessive trait and the gene is located on chromosome 16. APRT is a salvage enzyme that normally catalyses the conversion of adenine to adenine monophosphate using PP-ribose-P. Deficiency results in adenine accumulation with conversion to and excretion of 2, 8-dihydroxyadenine (2, 8-DHA) in the urine. 2, 8-DHA is protein-bound in plasma, but is extremely insoluble in urine at any pH. Tubular crystal deposition can occur associated with marked interstitial fibrosis and/or urolithiasis. Since its original description, APRT deficiency has been recognized increasingly as a cause of chronic renal failure. We report a case of APRT deficiency that was diagnosed after renal transplantation. This has led to specific treatment for the patient to reduce the risk of further crystal and stone formation in the transplanted kidney. Also, additional family members with the condition have been identified through family screening.