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Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation.

作者信息

Bargagli M, Primiano G, Primiano A, Gervasoni J, Naticchia A, Servidei S, Gambaro G, Ferraro P M

机构信息

U.O.C. Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italia.

Università Cattolica del Sacro Cuore, Roma, Italia.

出版信息

Urolithiasis. 2019 Oct;47(5):489-492. doi: 10.1007/s00240-018-1087-1. Epub 2018 Nov 7.

DOI:10.1007/s00240-018-1087-1
PMID:30406307
Abstract
摘要

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本文引用的文献

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Hypocitraturia Is an Untoward Side Effect of Synthetic Human Parathyroid Hormone (hPTH) 1-34 Therapy in Hypoparathyroidism That May Increase Renal Morbidity.低枸橼酸尿症是合成人甲状旁腺激素(hPTH)1-34 治疗甲状旁腺功能减退症的不良副作用,可能会增加肾脏疾病的发病率。
J Bone Miner Res. 2018 Oct;33(10):1741-1747. doi: 10.1002/jbmr.3480. Epub 2018 Jun 22.
2
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.m.3243A>G线粒体疾病中的表型异质性:核因子的作用。
Ann Clin Transl Neurol. 2018 Feb 7;5(3):333-345. doi: 10.1002/acn3.532. eCollection 2018 Mar.
3
Mitochondrial disease and endocrine dysfunction.
线粒体疾病中肾脏异常的范围很广。
Kidney Int Rep. 2022 May 19;7(7):1722. doi: 10.1016/j.ekir.2022.05.014. eCollection 2022 Jul.
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Calcium and Vitamin D Supplementation and Their Association with Kidney Stone Disease: A Narrative Review.钙剂和维生素 D 补充及其与肾结石病的关系:叙述性综述。
Nutrients. 2021 Dec 4;13(12):4363. doi: 10.3390/nu13124363.
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A Specific Urinary Amino Acid Profile Characterizes People with Kidney Stones.特定的尿氨基酸谱特征可用于识别肾结石患者。
Dis Markers. 2020 Jun 30;2020:8848225. doi: 10.1155/2020/8848225. eCollection 2020.
线粒体疾病与内分泌功能紊乱。
Nat Rev Endocrinol. 2017 Feb;13(2):92-104. doi: 10.1038/nrendo.2016.151. Epub 2016 Oct 7.
4
Mitochondrial dysfunction in inherited renal disease and acute kidney injury.遗传性肾病和急性肾损伤中的线粒体功能障碍
Nat Rev Nephrol. 2016 May;12(5):267-80. doi: 10.1038/nrneph.2015.214. Epub 2016 Jan 25.
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Science. 2015 Sep 25;349(6255):1494-9. doi: 10.1126/science.aac7516. Epub 2015 Sep 24.
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