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Adenine phosphoribosyltransferase deficiency as a rare cause of rapidly progressive chronic kidney disease.

作者信息

Alder Hannes, Gaspert Ariana, Fuster Daniel G

机构信息

Department of Nephrology, Winterthur Cantonal Hospital, Winterthur, Switzerland.

Department of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.

出版信息

J Nephrol. 2025 May 14. doi: 10.1007/s40620-025-02304-7.

DOI:10.1007/s40620-025-02304-7
PMID:40366599
Abstract
摘要

相似文献

1
Adenine phosphoribosyltransferase deficiency as a rare cause of rapidly progressive chronic kidney disease.腺嘌呤磷酸核糖转移酶缺乏症是快速进展性慢性肾脏病的罕见病因。
J Nephrol. 2025 May 14. doi: 10.1007/s40620-025-02304-7.
2
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.非布司他用于预防肾移植后因腺嘌呤磷酸核糖转移酶缺乏所致的复发性2,8-二羟基腺嘌呤肾病
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Dihydroxyadenine crystal-induced nephropathy presenting with rapidly progressive renal failure.二羟基腺嘌呤晶体诱导的肾病伴快速进展性肾衰竭。
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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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Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.腺嘌呤磷酸核糖转移酶缺乏症，伴有2,8 - 二羟基腺嘌呤在肾脏沉积，导致肾结石和慢性肾衰竭。
Arch Intern Med. 1993 Mar 22;153(6):767-70.
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Rapidly progressive kidney dysfunction and crystal casts associated with adenine phosphoribosyltransferase (APRT) deficiency-lessons for the clinical nephrologist.快速进展性肾功能不全与腺嘌呤磷酸核糖转移酶（APRT）缺乏相关的晶体管型——给临床肾病学家的教训
J Nephrol. 2021 Dec;34(6):2147-2149. doi: 10.1007/s40620-021-01042-w. Epub 2021 Apr 7.
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Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.日本2,8-二羟基腺嘌呤尿石症和腺嘌呤磷酸核糖转移酶缺乏症患者的分布情况。
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本文引用的文献

1
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。
Eur J Intern Med. 2018 Feb;48:75-79. doi: 10.1016/j.ejim.2017.10.007. Epub 2017 Dec 12.
2
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.腺嘌呤磷酸核糖基转移酶缺乏症中的肾脏疾病
Am J Kidney Dis. 2016 Mar;67(3):431-8. doi: 10.1053/j.ajkd.2015.10.023. Epub 2015 Dec 25.
3
Adenine phosphoribosyltransferase deficiency.
腺嘌呤磷酸核糖基转移酶缺乏症。
Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. doi: 10.2215/CJN.02320312. Epub 2012 Jun 14.
4
Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.腺嘌呤磷酸核糖基转移酶缺陷的表型和基因型特征。
J Am Soc Nephrol. 2010 Apr;21(4):679-88. doi: 10.1681/ASN.2009080808. Epub 2010 Feb 11.
5
Mutational basis of adenine phosphoribosyltransferase deficiency.腺嘌呤磷酸核糖转移酶缺乏症的突变基础。
Adv Exp Med Biol. 1991;309B:73-6. doi: 10.1007/978-1-4615-7703-4_16.