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婴儿期全身性动脉钙化

Generalized Arterial Calcification of Infancy.

作者信息

Donuru Achala, Kandula Vinay, Oliver Edward, Saul David

机构信息

Department of Radiology, Thomas Jefferson University Hospitals, 132 S 10th St, 1079 Main Building, Philadelphia, PA 19107 (A.D.); Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Del (V.K., D.S.); and Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pa (E.O.).

出版信息

Radiol Cardiothorac Imaging. 2020 Aug 13;2(4):e190226. doi: 10.1148/ryct.2020190226. eCollection 2020 Aug.

DOI:10.1148/ryct.2020190226
PMID:33778601
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7977956/
Abstract

Generalized arterial calcification of infancy (GACI) is a rare genetic disease that affects the circulatory system and the large- and medium-sized arteries throughout the body. GACI usually occurs during fetal development. Babies with GACI are diagnosed early, generally soon after birth and in some cases before birth by fetal ultrasound.

摘要

婴儿全身性动脉钙化（GACI）是一种罕见的遗传性疾病，会影响循环系统以及全身的大中型动脉。GACI通常在胎儿发育期间出现。患有GACI的婴儿通常在出生后不久，甚至在某些情况下在出生前通过胎儿超声检查被早期诊断出来。

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Generalized Arterial Calcification of Infancy.婴儿期全身性动脉钙化
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Two newborn babies with generalized arterial calcification of infancy, two new mutations.两名患有婴儿期全身性动脉钙化的新生儿，发现两个新突变。
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ENPP1 enzyme replacement therapy improves blood pressure and cardiovascular function in a mouse model of generalized arterial calcification of infancy.ENPP1 酶替代疗法可改善婴儿全身性动脉钙化症小鼠模型的血压和心血管功能。
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引用本文的文献

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Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with gene variant - Case report and literature review.伴有基因变异的婴儿期全身性动脉钙化的严重早发表现（酷似严重主动脉缩窄）——病例报告及文献综述
Front Cardiovasc Med. 2022 Dec 20;9:1032519. doi: 10.3389/fcvm.2022.1032519. eCollection 2022.
2
Case Report: Coexistence of generalized arterial calcification of infancy (GACI) and maternal infections with cytomegalovirus and -unexpected fatal complication in a newborn.病例报告：婴儿期全身性动脉钙化（GACI）与母亲巨细胞病毒感染并存及新生儿意外致命并发症
Front Pediatr. 2022 Aug 18;10:922379. doi: 10.3389/fped.2022.922379. eCollection 2022.

本文引用的文献

1
Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.伴有新型ENPP1突变的婴儿期全身性动脉钙化：一例报告。
BMC Pediatr. 2018 Jul 5;18(1):217. doi: 10.1186/s12887-018-1198-4.
2
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1.婴儿期全身性动脉钙化：与ENPP1基因新突变相关的致命临床病程
JIMD Rep. 2011;1:23-7. doi: 10.1007/8904_2011_11. Epub 2011 Jun 25.

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