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二羟基腺嘌呤晶体诱导的肾病伴快速进展性肾衰竭。

Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure.

作者信息

Verma Ritu, Niraimathi Manickam, Prasad Pallavi, Agrawal Vinita

机构信息

Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

出版信息

Kidney Res Clin Pract. 2018 Sep;37(3):287-291. doi: 10.23876/j.krcp.2018.37.3.287. Epub 2018 Sep 30.

DOI:10.23876/j.krcp.2018.37.3.287
PMID:30254853
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6147197/
Abstract

Adenine phosphoribosyltransferase enzyme deficiency is a rare, autosomal recessive disorder. It is a disease limited to the renal system and usually presents with urolithiasis. Herein, we report a young female with dihydroxyadenine (DHA) crystal-induced nephropathy presenting with rapidly progressive renal failure. DHA crystals can be easily diagnosed by their pathognomic color and shape in urine and biopsy specimens. A high index of clinical suspicion helps in the early diagnosis of this potentially treatable renal disease.

摘要

腺嘌呤磷酸核糖转移酶缺乏症是一种罕见的常染色体隐性疾病。它是一种局限于泌尿系统的疾病，通常表现为尿路结石。在此，我们报告一名年轻女性，患有二羟基腺嘌呤（DHA）晶体诱导的肾病，表现为快速进展性肾衰竭。DHA晶体在尿液和活检标本中可通过其特征性颜色和形状轻松诊断。高度的临床怀疑有助于早期诊断这种潜在可治疗的肾脏疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c74/6147197/ad92ac8ff700/krcp-37-287f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c74/6147197/0d7d992158b9/krcp-37-287f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c74/6147197/f3b4bfb12b87/krcp-37-287f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c74/6147197/ad92ac8ff700/krcp-37-287f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c74/6147197/0d7d992158b9/krcp-37-287f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c74/6147197/f3b4bfb12b87/krcp-37-287f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c74/6147197/ad92ac8ff700/krcp-37-287f3.jpg

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本文引用的文献

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Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.腺嘌呤磷酸核糖转移酶缺陷症（APRTd）患者中别嘌醇和非布司他对尿 2,8-二羟腺嘌呤排泄影响的比较：一项临床试验。
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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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2,8-Dihydroxyadeninuria-induced progressive renal failure.
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尿结晶的形态特征和溶解度试验的鉴别差异。
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Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.2,8-二羟腺嘌呤肾病中肾损伤的细胞和分子机制。
J Am Soc Nephrol. 2020 Apr;31(4):799-816. doi: 10.1681/ASN.2019080827. Epub 2020 Feb 21.
2,8-二羟基腺嘌呤尿症所致的进行性肾衰竭。
NDT Plus. 2008 Dec;1(6):437-439. doi: 10.1093/ndtplus/sfn110. Epub 2008 Aug 8.
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Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.复发性2,8 - 二羟基腺嘌呤肾病：肾移植失败的一种罕见但可预防的原因。
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2, 8 Dihydroxyadenine urolithiasis: A case report and review of literature.2,8-二羟基腺嘌呤尿路结石症：一例报告并文献复习
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