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两名患有PMM2-CDG的患者终末期肾病的发展情况。

The development of end stage renal disease in two patients with PMM2-CDG.

作者信息

Tiwary Henna, Hecht Leah E, Brucker William J, Berry Gerard T, Rodig Nancy M

机构信息

Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.

Hasbro Children's Hospital Providence Rhode Island USA.

出版信息

JIMD Rep. 2022 Jan 10;63(2):131-136. doi: 10.1002/jmd2.12269. eCollection 2022 Mar.

DOI:10.1002/jmd2.12269
PMID:35281664
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8898725/
Abstract

We report two patients with PMM2-CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2-CDG and have rarely been reported as the cause of death. Given the recurrent episodes of acute kidney injury associated with hospital admissions and the accelerated development of ESRD thereafter in our two patients, we recommend proactively involving Nephrology early in the care of these patients.

摘要

我们报告了两名患有PMM2-CDG并发展为终末期肾病（ESRD）的患者。具有临床意义的肾脏异常仅在约6%的PMM2-CDG患者中被报道过，并且很少被报道为死亡原因。鉴于我们这两名患者与住院相关的急性肾损伤反复发作以及此后ESRD的加速发展，我们建议在这些患者的护理早期就积极让肾脏病学专家参与进来。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6df2/8898725/7542efe7d543/JMD2-63-131-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6df2/8898725/7542efe7d543/JMD2-63-131-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6df2/8898725/7542efe7d543/JMD2-63-131-g001.jpg

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Acute kidney injury from sepsis: current concepts, epidemiology, pathophysiology, prevention and treatment.
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Front Genet. 2022 Dec 13;13:1019283. doi: 10.3389/fgene.2022.1019283. eCollection 2022.
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Kidney Int. 2019 Nov;96(5):1083-1099. doi: 10.1016/j.kint.2019.05.026. Epub 2019 Jun 7.
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