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肺泡毛细血管发育不良伴非典型迟发表现和长期生存的组织病理学和遗传学特征。

Histopathologic and Genetic Features of Alveolar Capillary Dysplasia with Atypical Late Presentation and Prolonged Survival.

机构信息

Division of Cardiology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.

出版信息

J Pediatr. 2019 Jul;210:214-219.e2. doi: 10.1016/j.jpeds.2019.01.047. Epub 2019 Mar 8.

DOI:10.1016/j.jpeds.2019.01.047
PMID:30853201
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6592752/
Abstract

Alveolar capillary dysplasia typically presents with neonatal pulmonary hypertension and early mortality. However, there is growing evidence for a subset of disease with atypical late onset and/or prolonged survival. Here, we present the variable clinical, genetic, and pathology findings of 4 such patients.

摘要

肺泡毛细血管发育不良通常表现为新生儿肺动脉高压和早期死亡。然而，越来越多的证据表明，有一部分疾病具有非典型的迟发和/或延长的生存期。在此，我们介绍了 4 例具有这种特征的患者的不同临床表现、遗传学和病理学发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e39/6592752/b21406e9978e/nihms-1520893-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e39/6592752/573f9226980e/nihms-1520893-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e39/6592752/b21406e9978e/nihms-1520893-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e39/6592752/573f9226980e/nihms-1520893-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e39/6592752/b21406e9978e/nihms-1520893-f0002.jpg

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本文引用的文献

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Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.肺静脉异位连接的肺泡毛细血管发育不良伴非典型表现的婴儿行双侧肺移植术。
J Pediatr. 2018 Mar;194:158-164.e1. doi: 10.1016/j.jpeds.2017.10.026. Epub 2017 Dec 1.
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Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.FOXF1的母体突变会导致肺泡毛细血管发育异常，尽管它并非印记基因。
Hum Mutat. 2017 Jun;38(6):615-620. doi: 10.1002/humu.23213. Epub 2017 Mar 24.
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PLoS Comput Biol. 2016 May 25;12(5):e1004962. doi: 10.1371/journal.pcbi.1004962. eCollection 2016 May.
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Pediatr Pulmonol. 2016 Sep;51(9):921-7. doi: 10.1002/ppul.23425. Epub 2016 May 4.
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Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings.FOXF1基因突变的母体体细胞嵌合导致同胞反复出现肺泡毛细血管发育不良伴肺静脉排列异常。
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.肺静脉错位的肺泡毛细血管发育不良的致病遗传学
Hum Genet. 2016 May;135(5):569-586. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12.
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A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins.一名患有肺静脉排列异常的肺泡毛细血管发育不良的晚期就诊患者及长期幸存者。
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