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新生儿持续性肺动脉高压的持续存在：一例新发TBX4变异病例。

Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant.

作者信息

Tsoi Stephanie M, Jones Kirk, Colglazier Elizabeth, Parker Claire, Nawaytou Hythem, Teitel David, Fineman Jeffrey R, Keller Roberta L

机构信息

Division of Pediatric Critical Care, Department of Pediatrics University of California San Francisco San Francisco California USA.

Department of Pathology University of California San Francisco San Francisco California USA.

出版信息

Pulm Circ. 2022 Jul 1;12(3):e12108. doi: 10.1002/pul2.12108. eCollection 2022 Jul.

DOI:10.1002/pul2.12108
PMID:35874850
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9297023/
Abstract

We present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of the newborn. Developmental arrest, pulmonary vascular hypertensive changes, and pulmonary interstitial glycogenosis were present on lung biopsy at 7 weeks of age. Pulmonary hypertension has persisted through childhood. Genetic testing at 8 years identified a novel mutation in TBX4.

摘要

我们报告一例晚期早产儿，出生第一天因新生儿持续性肺动脉高压接受体外生命支持。7周龄时肺活检显示有发育停滞、肺血管高压性改变和肺间质糖原贮积症。肺动脉高压持续至儿童期。8岁时的基因检测发现TBX4基因有一个新突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a1c/9297023/d25ce42ff945/PUL2-12-e12108-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a1c/9297023/d25ce42ff945/PUL2-12-e12108-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a1c/9297023/d25ce42ff945/PUL2-12-e12108-g001.jpg

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本文引用的文献

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Clin Genet. 2019 Oct;96(4):366-370. doi: 10.1111/cge.13605. Epub 2019 Jul 22.
2
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Eur Respir J. 2019 Aug 22;54(2). doi: 10.1183/13993003.01965-2018. Print 2019 Aug.
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Neonatal Lung Disease Associated with TBX4 Mutations.
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Am J Respir Crit Care Med. 2023 Apr 1;207(7):855-864. doi: 10.1164/rccm.202206-1039TR.
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