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1例罕见的腺嘌呤磷酸核糖转移酶缺乏症伴终末期肾衰竭及肾移植成功病例

A Rare Case of APRT Deficiency with End-stage Renal Failure and Successful Renal Transplant.

作者信息

Sharma Manish, Gowrishankar Swarnalata, Jeloka Tarun K

机构信息

Department of Nephrology, Aditya Birla Memorial Hospital, Pune, Maharashtra, India.

Department of Pathology, Apollo Hospital, Hyderabad, Telangana, India.

出版信息

Indian J Nephrol. 2021 Jan-Feb;31(1):57-60. doi: 10.4103/ijn.IJN_202_19. Epub 2021 Jan 27.

DOI:10.4103/ijn.IJN_202_19
PMID:33994690
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8101663/
Abstract

Renal calculus disease is a common cause of renal injury. However, crystal nephropathy (uric acid, oxalate, and dihydroxyadenine) can present as chronic kidney disease without any evidence of renal stones. If left undiagnosed, there is a potential chance of recurrence in the allograft leading to graft failure after transplantation. Pretransplant identification and management can avoid such complications. Here, we describe a case of APRT deficiency leading to crystal nephropathy and end-stage renal failure in a patient who underwent a successful kidney transplant.

摘要

肾结石病是肾损伤的常见原因。然而,晶体肾病(尿酸、草酸盐和二羟基腺嘌呤)可表现为慢性肾病,而无任何肾结石证据。如果未被诊断出来,同种异体移植肾有复发的潜在可能,导致移植后移植肾失功。移植前的识别和处理可避免此类并发症。在此,我们描述一例腺嘌呤磷酸核糖转移酶(APRT)缺乏导致晶体肾病和终末期肾衰竭的病例,该患者肾移植成功。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb3a/8101663/e9d3c5e966a7/IJN-31-57-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb3a/8101663/8b4cd475aa42/IJN-31-57-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb3a/8101663/e9d3c5e966a7/IJN-31-57-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb3a/8101663/8b4cd475aa42/IJN-31-57-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb3a/8101663/e9d3c5e966a7/IJN-31-57-g002.jpg

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本文引用的文献

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Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report.腺嘌呤磷酸核糖转移酶缺乏所致二羟基腺嘌呤结石:一例报告。
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Can J Kidney Health Dis. 2015 Sep 15;2:31. doi: 10.1186/s40697-015-0069-2. eCollection 2015.
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