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Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.

作者信息

Tanev Dobromir, Peteva Parvoleta, Fairbanks Lynette, Marinaki Anthony, Ivanova Milena, Alaikov Tzvetan, Shivarov Velizar

机构信息

Department of Rheumatology, Sofiamed University Hospital, Sofia, Bulgaria Purine Research Laboratory, Viapath, Guy's and St Thomas', NHS Hospitals Foundation Trust, London, United Kingdom Laboratory of Clinical Immunology, Alexandrovska University Hospital, Medical University Sofia, Sofia, Bulgaria Department of Clinical Hematology, Sofiamed University Hospital, Sofia, Bulgaria Department of Clinical Hematology, Sofiamed University Hospital, Sofia, Bulgaria; Department of Clinical Hematology and Laboratory of Clinical Immunology, Sofiamed University Hospital, Sofia, Bulgaria,

出版信息

J Clin Rheumatol. 2020 Mar;26(2):e49-e52. doi: 10.1097/RHU.0000000000000838.

DOI:10.1097/RHU.0000000000000838
PMID:32073534
Abstract
摘要

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Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.警惕尿酸：一名青少年特发性关节炎和遗传性黄嘌呤尿症患者出现严重的硫唑嘌呤骨髓抑制
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2
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).硫嘌呤诱导的毒性与人类钼辅因子硫代酶基因（黄嘌呤尿症 II 型）的功能异常变异有关。
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Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria.使用下一代测序技术鉴定导致II型黄嘌呤尿症的人类线粒体辅酶A合成酶基因突变
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Hereditary xanthinuria is not so rare disorder of purine metabolism.遗传性黄嘌呤尿症并非嘌呤代谢中罕见的病症。
Nucleosides Nucleotides Nucleic Acids. 2018;37(6):324-328. doi: 10.1080/15257770.2018.1460478. Epub 2018 May 3.
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[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)].[血液和尿液中尿酸无法测量；黄嘌呤脱氢酶缺乏症（或遗传性黄嘌呤尿症）]
Rev Med Interne. 1999 May;20(5):445. doi: 10.1016/s0248-8663(99)83100-2.
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Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.与人类黄嘌呤氧化还原酶功能紊乱及遗传性黄嘌呤尿症相关的突变。
Int J Mol Sci. 2012 Nov 21;13(11):15475-95. doi: 10.3390/ijms131115475.
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[Hereditary xanthinuria and molybdenum cofactor deficiency].[遗传性黄嘌呤尿症和钼辅因子缺乏症]
Nihon Rinsho. 2003 Jan;61 Suppl 1:377-82.
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Two siblings with classical xanthinuria type 1: significance of allopurinol loading test.两名患有典型1型黄嘌呤尿症的兄弟姐妹：别嘌醇负荷试验的意义
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[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].[黄嘌呤氧化酶缺乏症（遗传性黄嘌呤尿症），钼辅因子缺乏症]
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Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible for xanthinuria type II.鉴定人类钼辅因子硫酶基因中一个导致Ⅱ型黄嘌呤尿症的新点突变。
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引用本文的文献

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Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.九个以色列家庭及两例德国散发病例中的经典型黄嘌呤尿症：分子、生化及群体遗传学方面
Biomedicines. 2021 Jul 7;9(7):788. doi: 10.3390/biomedicines9070788.
2
An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.一种导致土库曼和阿拉伯家族患I型黄嘌呤尿症的祖传变异预计在亚非结石形成带普遍存在。
JIMD Rep. 2019 Dec 5;51(1):45-52. doi: 10.1002/jmd2.12077. eCollection 2020 Jan.