Pulmonary hemosiderosis in children with Down syndrome: a national experience

Orphanet Journal of Rare Diseases

for the French RespiRare® group¹  Véronique Houdouin²  Jacques de Blic³  Rola Abou Taam³  Nadia Nathan⁴  Jessica Taytard⁴  Harriet Corvol⁴  Aurelia Alimi⁴  Guillaume Thouvenin⁴  Sophie Leyronnas⁴  Caroline Perisson⁴  Annick Clement⁴  Aimé Ravel⁵  Ralph Epaud⁶  Pierrick Cros⁷  Marie-Catherine Renoux⁸  Françoise Troussier⁹  Michael Fayon^1,10  Philippe Reix^1,11  Caroline Thumerelle^1,12  Antoine Deschildre^1,12  Marc Lubrano Lavadera^1,13  Aude Forgeron^1,14  Sylvie Roullaud^1,15  Isabelle Gibertini^1,16  Jocelyne Derelle^1,16 

[1] ;APHP, Pediatric Pulmonology department, RespiRare, Faculty Paris Diderot VII, Inserm U1149, Robert Debré Hospital;APHP, Pediatric Pulmonology department, RespiRare, Necker Enfants Malades Hospital;Assistance Publique Hôpitaux de Paris (APHP), Pediatric Pulmonology department and Reference centre for rare lung diseases, RespiRare, Trousseau Hospital;Institut Jérôme Lejeune;Pediatric Pulmonology department, RespiRare, Créteil University Hospital, Inserm U955;Pediatric Pulmonology department, University Hospital, Inserm 1078;Pediatric Pulmonology department, University Hospital, Inserm U1046;Pediatric Pulmonology department, University Hospital, Inserm U892;Pediatric Pulmonology department, University Hospital, U1219;Pediatric Pulmonology department, University Hospital, UMR CNRS 5558;Pediatric Pulmonology department, University Hospital, UMR CNRS 8204 - Inserm U1019;Pediatric Pulmonology department, University Hospital;Pediatric department, Hospital Center, Inserm U646;Pediatric department, Hospital Centre;Pediatric department, University Hospital;

关键词: Pulmonary hemosiderosis;    Down syndrome;    Children;    Autoimmunity;    Interstitial lung disease;    Celiac disease;   

DOI  :  10.1186/s13023-018-0806-6

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown