早期诊断与晚期诊断对胱氨酸病疾病进展的影响 - Suppr

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超能文献

Impact of Early Versus Late Diagnosis on Disease Progression in Cystinosis.

作者信息

Benfield Mark R

机构信息

Pediatric Nephrology of Alabama, PC, Cullman, Alabama, USA.

出版信息

Kidney Int Rep. 2025 Mar 4;10(3 Suppl):S779-S783. doi: 10.1016/j.ekir.2024.10.037. eCollection 2025 Mar.

DOI:10.1016/j.ekir.2024.10.037

PMID:40143952

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11935125/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f20f/11935125/a92b9ad9a555/gr1.jpg

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本文引用的文献

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.婴儿型肾性胱氨酸病的结局取决于早期干预，而非基因型：一项多中心同胞队列研究。

J Inherit Metab Dis. 2023 Jan;46(1):43-54. doi: 10.1002/jimd.12562. Epub 2022 Oct 6.

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.胱胺治疗在生命的头 2 个月开始对婴儿胱氨酸病的肾小球和肾小管肾脏功能的有益影响。

Mol Genet Metab. 2022 Aug;136(4):282-288. doi: 10.1016/j.ymgme.2022.06.009. Epub 2022 Jul 1.

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.胱胺治疗起始年龄、治疗依从性与婴儿型遗传性胱氨酸病肾小球肾功能的关系。

Mol Genet Metab. 2022 Aug;136(4):268-273. doi: 10.1016/j.ymgme.2022.06.010. Epub 2022 Jul 2.

An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.一项跨越五十年的国际队列研究评估了肾性胱氨酸病的结局。

Kidney Int. 2021 Nov;100(5):1112-1123. doi: 10.1016/j.kint.2021.06.019. Epub 2021 Jul 6.

Adult complications of nephropathic cystinosis: a systematic review.肾性胱氨酸病的成人并发症：一项系统评价。

Pediatr Nephrol. 2021 Feb;36(2):223-236. doi: 10.1007/s00467-020-04487-6. Epub 2020 Feb 3.

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults.半胱氨酸治疗可延缓晚期青少年和成年患者的囊纤维化肾病进展。

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Ann Intern Med. 2007 Aug 21;147(4):242-50. doi: 10.7326/0003-4819-147-4-200708210-00006.

Cystinosis.胱氨酸病

N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552.

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