Pulmonary hemosiderosis in children with Down syndrome: a national experience

Aurelia Alimi 1 Jessica Taytard 1 Rola Abou Taam 2 Véronique Houdouin 3, 4 Aude Forgeron 5, 6 Marc Lavadera 7 Pierrick Cros 8, 9 Isabelle Gibertini 10 Jocelyne Derelle 11 Antoine Deschildre 12, 13 Caroline Thumerelle 12, 13 Ralph Epaud 14, 15 Philippe Reix 16, 17 Michael Fayon 18, 19 Sylvie Roullaud 20 Françoise Troussier 21, 22 Marie-Catherine Renoux 23, 24 Jacques de Blic 2 Sophie Leyronnas 1 Guillaume Thouvenin 1, 25, 26 Caroline Perisson 1 Aimé Ravel 27 Annick Clement 1, 28, 26 Harriet Corvol 1, 25, 26 Nadia Nathan 1, 28, 26, *
* Corresponding author
1 RespiRare - Centre pédiatrique de pneumologie et de référence pour les maladies pulmonaires rares [AP-HP Hôpital Armand-Trousseau]
2 MaMEA Necker - Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker]
3 CRI - Centre de recherche sur l'Inflammation
4 RespiRare - Centre pédiatrique de pneumologie et de référence pour les maladies pulmonaires rares [AP-HP Hôpital Robert Debré]
5 Ingénierie de la vectorisation particulaire
6 Département de Pédiatrie [CH Le Mans]
7 Département de pneumologie pédiatrique [CHU Rouen]
8 Département de pneumologie pédiatrique [CHRU Brest]
9 GGB - Génétique, génomique fonctionnelle et biotechnologies (UMR 1078)
10 Département de pédiatrie [CHRU Tours]
11 Département de pédiatrie [CHRU Nancy]
12 Département de pneumologie pédiatrique [CHRU Lille]
13 CIIL - Centre d’Infection et d’Immunité de Lille (CIIL) - U1019 - UMR 8204
14 RespiRare - Département de pneumologie pédiatrique [CHU Créteil]
15 BCR - Biomécanique cellulaire et respiratoire
16 Evaluation et modélisation des effets thérapeutiques
Département biostatistiques et modélisation pour la santé et l'environnement [LBBE]
17 Département de pneumologie pédiatrique [CHU Lyon]
18 Département de pneumologie pédiatrique [CHU Bordeaux]
19 BPH - Bordeaux population health
20 Département de pneumologie pédiatrique [CH Angoulême]
21 Département de pneumologie pédiatrique [CHU Angers]
22 CRCNA - Centre de Recherche en Cancérologie / Nantes - Angers
23 Département de pneumologie pédiatrique [CHU Montpellier]
24 PhyMedExp - Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046]
25 CR Saint-Antoine - Centre de Recherche Saint-Antoine
26 Sorbonne Universités
27 Institut Jérôme Lejeune
28 Physiopathologie des maladies génétiques d'expression pédiatrique
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.
Keywords : Children Down syndrome Pulmonary hemosiderosis Vasculitis Pulmonary hypertension Celiac disease Interstitial lung disease Autoimmunity
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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, BioMed Central, 2018, 13 (1), pp.60. ⟨10.1186/s13023-018-0806-6⟩. ⟨inserm-01823418⟩

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