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Pulmonary hemosiderosis in children with Down syndrome: a national experience.
- Source :
-
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Apr 20; Vol. 13 (1), pp. 60. Date of Electronic Publication: 2018 Apr 20. - Publication Year :
- 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.<br />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.<br />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.<br />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.
- Subjects :
- Adolescent
Adult
Celiac Disease immunology
Celiac Disease physiopathology
Child
Child, Preschool
Down Syndrome immunology
Female
Hemosiderosis immunology
Humans
Hypertension, Pulmonary immunology
Hypertension, Pulmonary physiopathology
Infant
Infant, Newborn
Lung Diseases immunology
Lung Diseases, Interstitial immunology
Lung Diseases, Interstitial physiopathology
Male
Young Adult
Hemosiderosis, Pulmonary
Down Syndrome physiopathology
Hemosiderosis physiopathology
Lung Diseases physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1750-1172
- Volume :
- 13
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Orphanet journal of rare diseases
- Publication Type :
- Academic Journal
- Accession number :
- 29678139
- Full Text :
- https://doi.org/10.1186/s13023-018-0806-6