Adenine phosphoribosyl transferase deficiency leads to renal allograft dysfunction in kidney transplant recipients: a systematic review

Abstract Background: Adenine phosphoribosyl transferase (APRT) deficiency has great implications on graft survival in kidney transplant patients. This systematic review investigated the diagnostic pattern, treatment approach, and kidney transplant outcomes among kidney transplant patients with adenine phosphoribosyl transferase deficiency. Material and methods: Articles reporting the APRT enzyme deficiency and kidney allograft dysfunction were retrieved from PubMed/Medline, ScienceDirect, Cochrane library and Google scholar databases. Descriptive analysis was used to draw inferences. Results: The results from 20 selected studies covering 30 patients receiving 39 grafts had an average age of 46.37 years are presented. Graft survival time of more than 6 months was reported in 23 (76.7%) patients, while other 7 (23.3%) patients had graft survival time of less than 6 months. Only 4 (13.3%) patients had APRT deficiency before transplantation. After follow-up, one-third of the patients 10 (33.3%) had stable graft function, 1 patient had allograft loss, 8 (26.6%) patients had delayed graft function while the remaining 11 (36.6%) patients had chronic kidney graft dysfunction. Conclusions: APRT deficiency is an under-recognized, treatable condition that causes reversible crystalline nephropathy, leading to loss of allograft or allograft dysfunction. The study results showed that inclusion of genetic determination of APRT deficiency in the differential diagnosis of crystalline nephropathy, even in the absence of a history of nephrolithiasis, can improve renal outcomes and may improve allograft survival.

摘要 背景：腺嘌呤磷酸核糖转移酶（adenine phosphoribosyl transferase，APRT）缺乏症对肾移植患者的移植物存活具有重要临床意义。本系统评价旨在探讨肾移植合并腺嘌呤磷酸核糖转移酶缺乏症患者的诊断模式、治疗方案及肾移植预后。材料与方法：从PubMed/Medline、ScienceDirect、Cochrane图书馆及Google Scholar数据库中检索报道APRT酶缺乏症与肾移植功能障碍的相关文献，采用描述性分析方法进行推论。结果：纳入20项相关研究，共覆盖30例接受39次肾移植的患者，患者平均年龄为46.37岁。其中23例（76.7%）患者移植物存活时间超过6个月，其余7例（23.3%）患者移植物存活时间不足6个月。仅4例（13.3%）患者在移植术前确诊APRT缺乏症。随访结果显示，10例（33.3%）患者移植物功能保持稳定，1例出现移植物失功，8例（26.6%）患者出现移植物功能延迟恢复，剩余11例（36.6%）患者出现慢性肾移植功能障碍。结论：APRT缺乏症是一种易被忽视、可治疗的疾病，可引发可逆性结晶性肾病，进而导致移植物失功或移植肾功能障碍。本研究结果提示，即便无肾结石病史，将APRT缺乏症的基因检测纳入结晶性肾病的鉴别诊断体系，可改善肾脏预后，或许能提升移植物存活率。