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腺嘌呤磷酸核糖基转移酶缺乏导致肾移植受者移植肾功能障碍:系统评价。

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

机构信息

National Institute of Pharmaceutical Education and Research, Department of Pharmacy Practice, S.A.S. Nagar, 160062, Punjab, India.

Government Medical College and Hospital, Department of General Medicine, 160030, Chandigarh, India.

出版信息

J Bras Nefrol. 2022 Jul-Sep;44(3):403-416. doi: 10.1590/2175-8239-JBN-2021-0283en.

DOI:10.1590/2175-8239-JBN-2021-0283en
PMID:35635787
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9518620/
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

腺嘌呤磷酸核糖基转移酶(APRT)缺乏症对肾移植患者移植物的存活率有重大影响。本系统回顾调查了腺嘌呤磷酸核糖基转移酶缺乏症肾移植患者的诊断模式、治疗方法和肾移植结局。

材料和方法

从 PubMed/Medline、ScienceDirect、Cochrane 图书馆和 Google 学者数据库中检索到报道 APRT 酶缺乏和肾移植功能障碍的文章。采用描述性分析得出结论。

结果

20 项研究共纳入 30 例接受 39 个移植物的患者,平均年龄为 46.37 岁。23 例(76.7%)患者的移植物存活时间超过 6 个月,而 7 例(23.3%)患者的移植物存活时间少于 6 个月。仅有 4 例(13.3%)患者在移植前存在 APRT 缺乏症。随访后,10 例(33.3%)患者的移植物功能稳定,1 例患者发生移植物丢失,8 例(26.6%)患者发生延迟移植物功能,其余 11 例(36.6%)患者发生慢性肾移植物功能障碍。

结论

APRT 缺乏症是一种被低估的可治疗疾病,可导致可逆性结晶肾病,导致移植物丢失或移植物功能障碍。研究结果表明,即使没有肾结石病史,将 APRT 缺乏症的遗传检测纳入结晶性肾病的鉴别诊断中,也可以改善肾脏结局,并可能改善移植物的存活率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b908/9518620/57a2202439bf/2175-8239-jbn-2021-0283-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b908/9518620/57a2202439bf/2175-8239-jbn-2021-0283-gf01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b908/9518620/57a2202439bf/2175-8239-jbn-2021-0283-gf01.jpg

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Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.
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