Acute Kidney Injury Associated with Severe Hypouricemia Caused By a Novel Mutation: Enlightenment from Rare Disease to Common Disease.
作者信息
Ai Sanxi, Xu Lubin, Zheng Ke
机构信息
Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Department of Internal Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Beijing 100730, China.
出版信息
J Transl Int Med. 2023 Jan 5;10(4):369-372. doi: 10.2478/jtim-2022-0001. eCollection 2022 Dec.
Abstract
摘要
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本文引用的文献
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Idiopathic renal hypouricemia: A case report and literature review.特发性肾尿酸盐减少症：病例报告并文献复习。
Mol Med Rep. 2019 Dec;20(6):5118-5124. doi: 10.3892/mmr.2019.10726. Epub 2019 Oct 4.
2
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.SLC22A12基因新型复合杂合突变导致的肾性低尿酸血症：1例病例报告并文献复习
BMC Med Genet. 2018 Aug 10;19(1):142. doi: 10.1186/s12881-018-0595-8.
3
Prevalence and complications of hypouricemia in a general population: A large-scale cross-sectional study in Japan.普通人群中低尿酸血症的患病率及并发症：日本的一项大规模横断面研究。
PLoS One. 2017 Apr 27;12(4):e0176055. doi: 10.1371/journal.pone.0176055. eCollection 2017.
4
Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.特发性肾低尿酸血症伴 SLC2A9 基因突变引起的复发性运动性急性肾损伤及文献复习。
BMC Pediatr. 2014 Mar 14;14:73. doi: 10.1186/1471-2431-14-73.
5
Homozygous SLC2A9 mutations cause severe renal hypouricemia.SLC2A9 基因突变导致纯合性严重肾脏低尿酸血症。
J Am Soc Nephrol. 2010 Jan;21(1):64-72. doi: 10.1681/ASN.2009040406. Epub 2009 Nov 19.
6
Hereditary renal hypouricemia.遗传性肾性低尿酸血症
Mol Genet Metab. 2006 Sep-Oct;89(1-2):14-8. doi: 10.1016/j.ymgme.2006.03.015. Epub 2006 May 5.
7
Exercise-induced acute renal failure associated with renal hypouricaemia: results of a questionnaire-based survey in Japan.运动诱发的急性肾衰竭伴肾性低尿酸血症：日本一项基于问卷调查的结果
Nephrol Dial Transplant. 2004 Jun;19(6):1447-53. doi: 10.1093/ndt/gfh094.
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