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新生儿产前胃肠道异常，随后被发现患有肺泡毛细血管发育不良。

Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia.

作者信息

Goel Dimple, Oei Ju Lee, Lui Kei, Ward Meredith, Shand Antonia W, Mowat David, Gifford Andrew J, Loo Christine

机构信息

Department of Newborn Care Royal Hospital for Women Sydney New South Wales Australia.

School of Women's and Children's Health University of New South Wales Randwick New South Wales Australia.

出版信息

Clin Case Rep. 2017 Mar 13;5(5):559-566. doi: 10.1002/ccr3.888. eCollection 2017 May.

DOI:10.1002/ccr3.888
PMID:28469849
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5412771/
Abstract

Alveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well-being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and gene testing may help in diagnosis.

摘要

肺泡毛细血管发育不良（ACD）是一种表现多样、临床病程各异的罕见病症。临床医生应考虑对患有非致死性先天性胃肠道畸形、出生后有一段健康期随后出现持续低氧血症和难治性肺动脉高压的新生儿进行这一诊断。肺活检和基因检测可能有助于诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f875/5412771/1f78e8859038/CCR3-5-559-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f875/5412771/635cddf59518/CCR3-5-559-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f875/5412771/cb9f8cd93083/CCR3-5-559-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f875/5412771/1f78e8859038/CCR3-5-559-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f875/5412771/635cddf59518/CCR3-5-559-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f875/5412771/cb9f8cd93083/CCR3-5-559-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f875/5412771/1f78e8859038/CCR3-5-559-g003.jpg

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J Paediatr Child Health. 2016 Jul;52(7):787-8. doi: 10.1111/jpc.13191.
2
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。
Eur J Pediatr. 2015 Aug;174(8):1123-6. doi: 10.1007/s00431-015-2543-3. Epub 2015 Apr 22.
3
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins.
识别遗传疾病：儿科肺部护理的关键方面。
Pediatr Pulmonol. 2020 Jul;55(7):1794-1809. doi: 10.1002/ppul.24706.
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Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.肺泡毛细血管发育不良伴肺静脉错位：临床、组织学及遗传学方面
Pulm Circ. 2018 Jul-Sep;8(3):2045894018795143. doi: 10.1177/2045894018795143. Epub 2018 Jul 30.
新型 FOXF1 内含子深度缺失导致致命性肺发育障碍、肺泡毛细血管发育不良伴肺静脉异位吻合。
Hum Mutat. 2013 Nov;34(11):1467-71. doi: 10.1002/humu.22395. Epub 2013 Sep 4.
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Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis.肺泡毛细血管发育不良伴肺静脉[纠正]错位：病理与分子诊断的一致性。
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