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Journal Articles Orphanet Journal of Rare Diseases Year : 2018

Pulmonary hemosiderosis in children with Down syndrome: a national experience

1 CHU Trousseau [APHP]
2 UMRS 1158 - Neurophysiologie Respiratoire Expérimentale et Clinique
3 MaMEA Necker - Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker]
4 CRI (UMR_S_1149 / ERL_8252 / U1149) - Centre de recherche sur l'Inflammation
5 RespiRare - Centre pédiatrique de pneumologie et de référence pour les maladies pulmonaires rares [AP-HP Hôpital Robert Debré]
6 Ingénierie de la vectorisation particulaire
7 Service de Pédiatrie [CH Le Mans]
8 Service de Pneumologie Pédiatrique [CHU Rouen]
9 Département de pneumologie pédiatrique [CHRU Brest]
10 GGB - Génétique, génomique fonctionnelle et biotechnologies (UMR 1078)
11 Département de pédiatrie [CHRU Tours]
12 Département de pédiatrie [CHRU Nancy]
13 Pneumologie et allergologie pédiatriques [CHU Jeanne de Flandre, Lille]
14 CIIL - Centre d’Infection et d’Immunité de Lille - INSERM U 1019 - UMR 9017 - UMR 8204
15 RespiRare - Département de pneumologie pédiatrique [CHU Créteil]
16 BCR - Biomécanique cellulaire et respiratoire
17 Evaluation et modélisation des effets thérapeutiques [LBBE]
18 Département de pneumologie pédiatrique [CHU Lyon]
19 Département de pneumologie pédiatrique [CHU Bordeaux]
20 BPH - Bordeaux population health
21 Département de pneumologie pédiatrique [CH Angoulême]
22 Département de pneumologie pédiatrique [CHU Angers]
23 CRCNA - Centre de Recherche en Cancérologie Nantes-Angers
24 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
25 CRSA - Centre de Recherche Saint-Antoine
26 SU - Sorbonne Université
27 Institut Jérôme Lejeune
28 U933 - Maladies génétiques d'expression pédiatrique
Isabelle Gibertini
  • Function : Author
  • PersonId : 930590

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.
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Dates and versions

inserm-01823418 , version 1 (26-06-2018)

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Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, et al.. Pulmonary hemosiderosis in children with Down syndrome: a national experience. Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.60. ⟨10.1186/s13023-018-0806-6⟩. ⟨inserm-01823418⟩
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