1. [Unusual pulmonary presentation of lysinuric protein intolerance].
- Author
-
Berthoux E, Durieu I, Guffon N, Sivova N, Gamondes D, Cordier JF, and Cottin V
- Subjects
- Adult, Amino Acid Metabolism, Inborn Errors complications, Female, Humans, Lysine urine, Pulmonary Alveolar Proteinosis etiology, Lysine metabolism, Pulmonary Alveolar Proteinosis diagnosis
- Abstract
A 28-year-old girl suffering from lysinuric protein intolerance was referred on account of severe chronic respiratory failure. Since childhood she had failure to thrive with chronic hyperammonaemia and interstitial lung disease but normal respiratory function. At the age of 21, she experienced haemoptysis and worsening of the respiratory disease. CT scan of the chest showed bilateral, symmetrical ground glass opacities and subpleural cysts. At the age of 25, nocturnal non-invasive ventilation was initiated. Lysinuric protein intolerance is an exceptional genetic cause of interstitial lung disease., (Copyright © 2010 SPLF. Published by Elsevier Masson SAS. All rights reserved.)
- Published
- 2010
- Full Text
- View/download PDF