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Updated: Jun 8, 2026

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
Published on: June 8, 2022
[Unusual pulmonary presentation of lysinuric protein intolerance]
E Berthoux1, I Durieu, N Guffon
1UMR 754 INRA, centre de référence des maladies pulmonaires rares, hôpital Louis-Pradel, hospices civils de Lyon, université de Lyon, université Lyon I, 69677 Lyon, France.
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.
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