Back to Search
Start Over
Pulmonary hemosiderosis in children with Down syndrome: a national experience
- Source :
- Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, BioMed Central, 2018, 13 (1), pp.60. ⟨10.1186/s13023-018-0806-6⟩, Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.60. ⟨10.1186/s13023-018-0806-6⟩, Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
- Publication Year :
- 2018
- Publisher :
- HAL CCSD, 2018.
-
Abstract
- Background Pulmonary 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. Methods Patients 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. Results A 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. Conclusions DS 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. Electronic supplementary material The online version of this article (10.1186/s13023-018-0806-6) contains supplementary material, which is available to authorized users.
- Subjects :
- Lung Diseases
Male
Pediatrics
Down syndrome
lcsh:Medicine
Autoimmunity
0302 clinical medicine
Medicine
Celiac disease
Pharmacology (medical)
Young adult
Child
Children
Genetics (clinical)
education.field_of_study
Interstitial lung disease
General Medicine
3. Good health
medicine.anatomical_structure
Child, Preschool
Female
medicine.symptom
Vasculitis
Adult
medicine.medical_specialty
Hemosiderosis
Adolescent
Hypertension, Pulmonary
Population
[SDV.CAN]Life Sciences [q-bio]/Cancer
Pulmonary hypertension
03 medical and health sciences
Young Adult
[SDV.CAN] Life Sciences [q-bio]/Cancer
030225 pediatrics
Humans
education
Lung
business.industry
Research
lcsh:R
Infant, Newborn
Infant
Hypoxia (medical)
medicine.disease
Pulmonary hemosiderosis
030228 respiratory system
business
Lung Diseases, Interstitial
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Database :
- OpenAIRE
- Journal :
- Orphanet Journal of Rare Diseases, Orphanet Journal of Rare Diseases, BioMed Central, 2018, 13 (1), pp.60. ⟨10.1186/s13023-018-0806-6⟩, Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.60. ⟨10.1186/s13023-018-0806-6⟩, Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
- Accession number :
- edsair.doi.dedup.....f0e5ccf9c752b2a2737e1a2ce4af178e