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胱氨酸尿症:一种终身且令人沮丧的疾病综述。

Cystinuria: Review of a Life-long and Frustrating Disease.

机构信息

Department of Medicine, University of Chicago, Chicago, IL, USA.

出版信息

Yale J Biol Med. 2021 Dec 29;94(4):681-686. eCollection 2021 Dec.

PMID:34970106
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8686768/
Abstract

Cystinuria, accounting for about 1-2% of kidney stones in adults, carries significant morbidity beginning at a young age [1]. Cystine stone formers have more stone events compared to other stone formers, as well as more surgical interventions, potentially contributing to faster progression to chronic kidney disease (CKD), and end-stage kidney disease (ESKD) [2]. Successful medical therapy for cystine stone formers may be limited by adherence to the extensive lifestyle changes and the adverse side effect profiles of some interventions, leading to decreased quality of life for these patients relative to other stone formers.

摘要

胱氨酸尿症约占成人肾结石的 1-2%,自幼年起即具有显著的发病率[1]。与其他结石形成者相比,胱氨酸结石形成者发生结石事件更多,接受手术干预也更多,这可能导致其更快进展为慢性肾脏病(CKD)和终末期肾病(ESKD)[2]。由于对某些干预措施的不良反应谱和广泛的生活方式改变的依从性有限,胱氨酸结石形成者的医学治疗可能受到限制,从而导致这些患者的生活质量相对其他结石形成者下降。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/247a/8686768/c80e3a758b68/yjbm_94_4_681_g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/247a/8686768/c80e3a758b68/yjbm_94_4_681_g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/247a/8686768/c80e3a758b68/yjbm_94_4_681_g01.jpg

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2
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本文引用的文献

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An Update on Evaluation and Management in Cystinuria.胱氨酸尿症评估与管理的最新进展
Urology. 2021 Mar;149:70-75. doi: 10.1016/j.urology.2020.12.025. Epub 2021 Jan 6.
2
Cystinuria: clinical practice recommendation.胱氨酸尿症:临床实践建议。
Kidney Int. 2021 Jan;99(1):48-58. doi: 10.1016/j.kint.2020.06.035. Epub 2020 Sep 9.
3
Evaluation and Medical Management of Patients with Cystine Nephrolithiasis: A Consensus Statement.胱氨酸肾病结石患者的评估和医学管理:共识声明。
J Nephrol. 2024 Jul;37(6):1715-1717. doi: 10.1007/s40620-023-01877-5. Epub 2024 Mar 21.
4
Pharmacological interventions for the management of cystinuria: a systematic review.用于胱氨酸尿症管理的药物干预措施:一项系统评价
J Nephrol. 2024 Mar;37(2):293-308. doi: 10.1007/s40620-023-01795-6. Epub 2023 Nov 13.
5
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.胱氨酸结石患者的临床病程及突变分析:单中心经验
Biomedicines. 2023 Oct 11;11(10):2747. doi: 10.3390/biomedicines11102747.
6
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.遗传性代谢疾病的临床与生化特征。十四、代谢性肾脏疾病。
Mol Genet Metab. 2023 Nov;140(3):107683. doi: 10.1016/j.ymgme.2023.107683. Epub 2023 Aug 12.
7
Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature.胱氨酸尿症导致妊娠非典型并发症的典型病程:一例病例报告及文献综述
Front Med (Lausanne). 2023 Apr 6;10:1097442. doi: 10.3389/fmed.2023.1097442. eCollection 2023.
8
Case-based review of dietary management of cystinuria.胱氨酸尿症饮食管理的病例回顾
World J Urol. 2023 May;41(5):1215-1220. doi: 10.1007/s00345-022-04263-1. Epub 2022 Dec 24.
J Endourol. 2020 Nov;34(11):1103-1110. doi: 10.1089/end.2019.0703. Epub 2020 Apr 6.
4
Assessment of health-related quality of life in patients with cystinuria on tiopronin therapy.评估巯丁二酸治疗胱氨酸尿症患者的健康相关生活质量。
Urolithiasis. 2020 Aug;48(4):313-320. doi: 10.1007/s00240-019-01174-6. Epub 2019 Dec 13.
5
What are the main challenges to the pharmacological management of cystinuria?
Expert Opin Pharmacother. 2020 Feb;21(2):131-133. doi: 10.1080/14656566.2019.1691522. Epub 2019 Nov 14.
6
Hypertension and renal impairment in patients with cystinuria: findings from a specialist cystinuria centre.胱氨酸尿症患者的高血压和肾功能损害:来自专门的胱氨酸尿症中心的发现。
Urolithiasis. 2019 Aug;47(4):357-363. doi: 10.1007/s00240-019-01110-8. Epub 2019 Feb 25.
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