New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare® cohort

Orphanet Journal of Rare Diseases

Harriet Corvol⁹  Annick Clement⁹  Delphine Michon⁹  Malika Mahloul⁹  Pierrick Cros^1,10  Philippe Reix⁷  Raphaël Chiron⁶  Marc Lubrano⁸  Françoise Troussier¹  Antoine Deschildre³  Ralph Epaud⁵  Mickael Fayon²  Jacques de Blic⁴  Nadia Nathan⁹  Jessica Taytard⁹ 

[1] Pediatric Department, Centre Hospitalier Universitaire d’Angers, Angers, France;CHU de Bordeaux, Centre d’Investigation Clinique (CIC 0005), F-33076 Bordeaux, France;Pediatric Department, Centre Hospitalier Universitaire de Lille, Lille, France;Pediatric Pulmonary Department, AP-HP, Hôpital Necker Enfants Malades, Paris, France;Pediatric Department, Centre Hospitalier Inter-communal de Créteil, Créteil, France;Pediatric Department, Centre Hospitalier Universitaire de Montpellier, Montpellier, France;Pediatric Pulmonary Department, Centre Hospitalier Universitaire de Lyon, Lyon, France;Pediatric Department, Centre Hospitalier Universitaire de Rouen, Rouen, France;Pediatric Pulmonary Department, AP-HP, Hôpital Trousseau, Université Pierre et Marie Curie-Paris6, Inserm U938, 26, avenue du Docteur Arnold-Netter, 75012 Paris, France;Pediatric Department, Centre Hospitalier Universitaire de Brest, Brest, France

关键词: Down syndrome;    Coeliac disease;    Autoimmune lung disease;    Interstitial lung disease;    Child;    Idiopathic pulmonary hemosiderosis;   

Others  :  863475
DOI  :  10.1186/1750-1172-8-161

 received in 2013-07-12, accepted in 2013-10-11,  发布年份 2013

【 摘 要 】

Background

Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children and its pathophysiology remains obscure. Classically, diagnosis is based on a triad including hemoptysis, diffuse parenchymal infiltrates on chest X-rays, and iron-deficiency anemia. We present the French pediatric cohort of IPH collected through the French Reference Center for Rare Lung Diseases (RespiRare®, http://www.respirare.fr webcite).

Methods

Since 2008, a national network/web-linked RespiRare® database has been set up in 12 French pediatric respiratory centres. It is structured as a medical recording tool with extended disease-specific datasets containing clinical information relevant to all forms of rare lung diseases including IPH.

Results

We identified 25 reported cases of IPH in children from the database (20 females and 5 males). Among them, 5 presented with Down syndrome. Upon diagnosis, median age was 4.3 [0.8-14.0] yrs, and the main manifestations were: dyspnea (n = 17, 68%), anemia (n = 16, 64%), cough (n = 12, 48%), febrile pneumonia (n = 11, 44%) and hemoptysis (n = 11, 44%). Half of the patients demonstrated diffuse parenchymal infiltrates on chest imaging, and diagnosis was ascertained either by broncho-alveolar lavage indicating the presence of hemosiderin-laden macrophages (19/25 cases), or lung biopsy (6/25). In screened patients, initial auto-immune screening revealed positive antineutrophilic cytoplasmic antibodies (ANCA) (n = 6, 40%), antinuclear antibodies (ANA) (n = 5, 45%) and specific coeliac disease antibodies (n = 4, 28%). All the patients were initially treated by corticosteroids. In 13 cases, immunosuppressants were introduced due to corticoresistance and/or major side effects. Median length of follow-up was 5.5 yrs, with a satisfactory respiratory outcome in 23/25 patients. One patient developed severe pulmonary fibrosis, and another with Down syndrome died as a result of severe pulmonary hemorrhage.

Conclusion

The present cohort provides substantial information on clinical expression and outcomes of pediatric IPH. Analysis of potential contributors supports a role of auto-immunity in disease development and highlights the importance of genetic factors.

【 授权许可】

   
2013 Taytard et al.; licensee BioMed Central Ltd.

【 图 表 】

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