ArticleJournal of inherited metabolic disease2015
Lung involvement in children with lysinuric protein intolerance.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 46 citations in OpenAlex.
- From metabolic disorder to autoimmunity: lupus-like immune dysregulation in children with SLC7A7-associated lysinuric protein intolerance.BMC pediatrics · 2026Review
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.Biochemistry and biophysics reports · 2025Article
- Interstitial Lung Disease in Lysinuric Protein Intolerance Diagnosed by a Transbronchial Lung Cryobiopsy.Internal medicine (Tokyo, Japan) · 2025Article
- Clinical approach for pulmonary alveolar proteinosis in children.World journal of clinical cases · 2024Article
- Childhood interstitial lung diseases: current understanding of the classification and imaging findings.Japanese journal of radiology · 2024Review
- Pathogenesis-driven treatment of primary pulmonary alveolar proteinosis.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family.Pediatric investigation · 2024Article
- [Enteral nutrition support for lysinuric protein intolerance: a case report and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.Molecular genetics and metabolism · 2023Review
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.Disease models & mechanisms · 2023Article
- Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.Disease models & mechanisms · 2023Article
- A complicated case of whole-lung lavage: a case report.Frontiers in medicine · 2023Article
- Children with lysinuric protein intolerance: Experience from a lower middle income country.World journal of clinical pediatrics · 2022Article
- Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.Frontiers in pediatrics · 2021Article
- Alveolar proteinosis of genetic origins.European respiratory review : an official journal of the European Respiratory Society · 2020Article
- Pulmonary alveolarproteinosis in children.Breathe (Sheffield, England) · 2020Review
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders.International journal of molecular sciences · 2019Review
- InducibleInternational journal of molecular sciences · 2019Article
- Overview of symptoms and treatment for lysinuric protein intolerance.Journal of human genetics · 2019Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesLysinuric 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
methodsRetrospective 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.
resultsLung 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.
conclusionPAP 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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