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。
A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins.
作者信息
Ito Yukie, Akimoto Takuma, Cho Kazutoshi, Yamada Masafumi, Tanino Mishie, Dobata Tomoyuki, Kitaichi Masanori, Kumaki Satoru, Kinugawa Yoshikazu
机构信息
Department of Pediatrics, Teine Keijinkai Hospital, 1-Jo, 12-1-40, Maeda, Teine-Ku, Sapporo, Hokkaido, 006-8555, Japan,
出版信息
Eur J Pediatr. 2015 Aug;174(8):1123-6. doi: 10.1007/s00431-015-2543-3. Epub 2015 Apr 22.
UNLABELLED
This report demonstrates a late presenter and long-term survivor (38 months old) of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) and with a heterozygous frameshift mutation in FOXF1. The mild phenotype may be due to his residual normal lung tissue as demonstrated in the chest computed tomography (CT) and histopathological findings.
CONCLUSION
We report the longest survivor of ACD/MPV. The mild phenotype is most likely due to the patient's residual normal lung tissue.
未标注
本报告展示了一名患有肺泡毛细血管发育不良伴肺静脉排列异常（ACD/MPV）且FOXF1基因存在杂合移码突变的迟发性患者及长期存活者（38个月大）。其轻微的表型可能归因于胸部计算机断层扫描（CT）和组织病理学检查结果所显示的残留正常肺组织。
结论
我们报告了ACD/MPV存活时间最长的患者。轻微表型很可能是由于患者残留的正常肺组织所致。
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