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01-03-2015 | Original Article

Lung involvement in children with lysinuric protein intolerance

Authors: Sarah Valimahamed-Mitha, Laureline Berteloot, Héloise Ducoin, Chris Ottolenghi, Pascale de Lonlay, Jacques de Blic

Published in: Journal of Inherited Metabolic Disease | Issue 2/2015

Abstract

Background and objectives

Lysinuric protein intolerance (LPI) is a rare multisystemic metabolic disease. The objective of the study was to describe presentation and course of lung involvement in a cohort of ten children.

Patients and methods

Retrospective review of patients followed at Necker-Enfants Malades University Hospital between 1980 and 2012 for a LPI. In patients with lung involvement, clinical data, chest radiographs, pulmonary function tests, bronchoalveolar lavages, and lung biopsies were analyzed. The first and last high-resolution computed tomography (HRCT) were also reviewed.

Results

Lung involvement was observed in ten of 14 patients (71 %). Five patients had an acute onset of respiratory symptoms, three had a progressive onset and two were free of symptoms. During the period studied, six patients (60 %) died, all in a context of respiratory failure. Clinical presentation and course were highly variable, even in the same family. HRCT were performed in seven cases, showing in all cases an interstitial pattern and fibrosis in four. All ten patients had pulmonary alveolar proteinosis (PAP) confirmed by histopathological analysis. Five patients had pulmonary fibrosis (at biopsy and/or HRCT scan). Two patients underwent whole lung lavages, without efficiency.

Conclusion

PAP is a constant feature in children with LPI and lung involvement. Pulmonary fibrosis is frequent and these two pathologies may develop independently. This study shows the heterogeneity of presentation and outcome. Lung injury could be secondary to impaired phagocytic function and abnormal inflammatory and immune responses intrinsic to the SLC7A7 mutant phenotype. HRCT is recommended to detect lung involvement.

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Title: Lung involvement in children with lysinuric protein intolerance
Authors: Sarah Valimahamed-Mitha
Laureline Berteloot
Héloise Ducoin
Chris Ottolenghi
Pascale de Lonlay
Jacques de Blic
Publication date: 01-03-2015
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 2/2015
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-014-9777-5

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