[Unusual pulmonary presentation of lysinuric protein intolerance]

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.