Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult
Vincent Cottin, Mouhamad Nasser, Julie Traclet, Lara Chalabreysse, Anne-Sophie Lèbre, Salim Si‐Mohamed, F. Philit, Françoise Thivolet-Béjui
Abstract
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> We thank Sylvie Boyer (Lyon) for aminoacids measurement, and Kais Ahmad, Jade Cuilleron, Sylvie Ernesto, Laure Folliet, Nathalie Guffon, Lize Kiakouama, Jacques-Olivier Maillard, Pascale Nesme-Meyer and Judith Proovost and for clinical care of the patient.