Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?

Orphanet Journal of Rare Diseases

Jacques de Blic⁸  Christophe Delacourt⁸  Virginie Verkarre^1,13  Bruno Toupance⁶  Jean-Pierre Rivière^1,11  Michel Renouil^1,10  Malek Louha²  Mélinée Linard¹  Matthias Griese³  Françoise Darcel⁴  Vincent Boulay^1,12  Liliane Boccon-Gibod⁵  Florence Lacaille⁷  Laureline Berteloot⁹  Aurore Coulomb⁵  Alice Hadchouel⁸  Laurent Enaud^1,10 

[1] CHU Sud Réunion, Service de Radiologie, Saint-Pierre, La Réunion, France;AP-HP, CHU Paris-Est Hôpital d’Enfants Armand Trousseau, laboratoire de Biochimie et Biologie Moléculaire, Paris, France;Hauner Children’s University Hospital, Ludwig-Maximilians-University, Member of the German Center for Lung Research, Munich, Germany;CHU Sud Réunion, service de Neurologie, Saint-Pierre, La Réunion, France;AP-HP, CHU Paris-Est Hôpital d’Enfants Armand Trousseau, service d’Anatomie et Cytologie Pathologiques, Paris, France;Eco-Anthropologie et Ethnobiologie, UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité, Paris, France;AP-HP, Hôpital Necker-Enfants Malades, service de Gastroentérologie Pédiatrique, Paris, France;Université Paris-Descartes, Paris, France;AP-HP, Hôpital Necker-Enfants Malades, service de Radiologie Pédiatrique, Paris, France;CHU Sud Réunion, service de Pédiatrie, Saint-Pierre, La Réunion, France;CHU Nord Réunion, service d’Anatomie et Cytologie Pathologiques, Saint-Denis, La Réunion, France;CHU Sud Réunion, service de Pneumologie, Saint-Pierre, La Réunion, France;AP-HP, Hôpital Necker-Enfants Malades, service d’Anatomie et Cytologie Pathologiques, Paris, France

关键词: Liver disease;    Child;    Pulmonary fibrosis;    Pulmonary alveolar proteinosis;   

Others  :  866731
DOI  :  10.1186/1750-1172-9-85

 received in 2014-03-11, accepted in 2014-06-05,  发布年份 2014

【 摘 要 】

Background

Pulmonary alveolar proteinosis (PAP) is very rare in children. Only a few small series have been published, with little information about long-term progression. The objective of our study was to describe the clinical, radiological and pathological features, and the long-term course of PAP in a cohort of 34 children from La Réunion Island.

Methods

Data were retrospectively collected from medical files. Radiological and pathological elements were reviewed by two pediatric radiologists and three pathologists, respectively.

Results

Thirteen cases were familial and 32/34 (94%) cases were family connected. Disease onset occurred in the first six months of life in 82% of the patients. Thoracic computed tomography scans showed the typical “crazy-paving” pattern in 94% of cases. Respiratory disease was associated with a liver disorder, with the detection of liver enlargement at diagnosis in 56% of cases. The course of the disease was characterized by frequent progression to chronic respiratory insufficiency, accompanied by the appearance of cholesterol granulomas and pulmonary fibrosis. Overall prognosis was poor, with a mortality of 59% and an overall five-year survival rate from birth of 64%. Whole-lung lavages were performed in 21 patients, with no significant effect on survival. Liver disease progressed to cirrhosis in 18% of children, with no severe complication.

Conclusions

PAP in children from la Réunion Island is characterized by an early onset, associated liver involvement, poor prognosis and frequent progression to lung fibrosis, despite whole-lung lavages treatment. The geographic clustering of patients and the detection of many familial links between most of the cases strongly suggest a genetic etiology, with an autosomal recessive mode of inheritance.

【 授权许可】

   
2014 Enaud et al.; licensee BioMed Central Ltd.

【 图 表 】

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