ArticleOrphanet journal of rare diseases2018
Pulmonary hemosiderosis in children with Down syndrome: a national experience.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Respiratory support in patients with Down syndrome: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2025Pooled it
- Immune dysregulation in children with Down syndrome: clinical implications and emerging therapies.Current opinion in rheumatology · 2026Review
- Review
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- Pediatric cardiac patients with pulmonary hemorrhage supported on ECMO: An ELSO registry study.The journal of extra-corporeal technology · 2025Observational
- Clinical features and risk factors for recurrence of idiopathic pulmonary hemosiderosis in children.BMC pulmonary medicine · 2024Observational
- Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!Pediatric pulmonology · 2023Article
- Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report.Journal of medical case reports · 2023Article
- Diffuse alveolar haemorrhage in children: an international multicentre study.ERJ open research · 2023Article
- Heart Rate Variability in Individuals with Down Syndrome: A Scoping Review with Methodological Considerations.International journal of environmental research and public health · 2023Article
- Article
- Adult patients with idiopathic pulmonary hemosiderosis: a comprehensive review of the literature.Clinical rheumatology · 2022Review
- Proposed Pathogenesis of Diffuse Alveolar Hemorrhage in Idiopathic Pulmonary Hemosiderosis.Lung · 2022Review
- Prevalence of autoantibodies in pediatric patients with idiopathic pulmonary hemosiderosis: a scoping review of the literature in the period 1980-2021.Clinical rheumatology · 2022Article
- Review
- Lung disease manifestations in Down syndrome.American journal of physiology. Lung cellular and molecular physiology · 2021Review
- The etiology, clinical profile, and outcome of diffuse alveolar hemorrhage in children: a ten-year single-center experience.Translational pediatrics · 2021Article
- RaDiCo, the French national research program on rare disease cohorts.Orphanet journal of rare diseases · 2021Article
- Diffuse alveolar hemorrhage in children with trisomy 21.Pediatric rheumatology online journal · 2021Review
- Idiopathic pulmonary hemosiderosis: a review of the treatments used during the past 30 years and future directions.Clinical rheumatology · 2021Review
Corrections and comments
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Authors and funding
26 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosiderosis and Down syndrome (DS), and at least one tested autoantibody was found positive in 50%. This study investigates the relationships between pulmonary hemosiderosis and DS.
methodsPatients younger than 20 years old and followed for pulmonary hemosiderosis were retrieved from the RespiRare® database. Clinical, biological, functional, and radiological findings were collected, and DS and non-DS patients' data were compared.
resultsA total of 34 patients (22 girls and 12 boys) were included, among whom nine (26%) presented with DS. The mean age at diagnosis was 4.1 ± 3.27 years old for non-DS and 2.9 ± 3.45 years old for DS patients. DS patients tended to present a more severe form of the disease with an earlier onset, more dyspnoea at diagnosis, more frequent secondary pulmonary hypertension, and an increased risk of fatal evolution.
conclusionsDS patients have a higher risk of developing pulmonary hemosiderosis, and the disease seems to be more severe in this population. This could be due to the combination of an abnormal lung capillary bed with fragile vessels, a higher susceptibility to autoimmune lesions, and a higher risk of evolution toward pulmonary hypertension. A better screening for pulmonary hemosiderosis and a better prevention of hypoxia in DS paediatric patients may prevent a severe evolution of the disease.
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Registered trials
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