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Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult
European Respiratory Journal ( IF 16.6 ) Pub Date : 2020-01-24 , DOI: 10.1183/13993003.01952-2019
Vincent Cottin , Mouhamad Nasser , Julie Traclet , Lara Chalabreysse , Anne-Sophie Lèbre , Salim Si-Mohamed , François Philit , Françoise Thivolet-Béjui

Pulmonary fibrosis is considered to result from recurrent alveolar epithelial injury coupled with dysfunctional alveolar wound healing mechanisms, some of which have a genetic background. Pulmonary fibrosis in the adult has not been previously associated with prolidase deficiency, an innate deficiency of amino acid metabolism. Prolidase deficiency is a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult http://bit.ly/2QRgqMH

中文翻译:

脯氨酸酶缺乏症:成人合并肺纤维化和肺气肿综合征的新遗传原因

肺纤维化被认为是由复发性肺泡上皮损伤以及肺泡伤口愈合机制功能障碍引起的,其中一些具有遗传背景。成人肺纤维化以前与脯氨酸酶缺乏症(氨基酸代谢的先天缺陷)无关。脯氨酸酶缺乏症是成人合并肺纤维化和肺气肿综合征的新遗传原因 http://bit.ly/2QRgqMH
更新日期:2020-01-24
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