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

Laurent Enaud, Alice Hadchouel1, Aurore Coulomb

  • 1Service de Pneumologie Pédiatrique, AP-HP, Hôpital Necker-Enfants Malades, service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, 149-161 rue de Sèvres, 75015 Paris, France. alice.hadchouel-duverge@nck.aphp.fr.

Orphanet Journal of Rare Diseases
|June 15, 2014
PubMed

Insights

Pediatric pulmonary alveolar proteinosis (PAP) in La Réunion Island presents early, often with liver issues and a poor prognosis. This rare childhood lung disease frequently progresses to fibrosis, suggesting a genetic cause.

Area of Science:

  • Pediatric Pulmonology
  • Rare Diseases
  • Genetic Etiology

Background:

  • Pulmonary alveolar proteinosis (PAP) is exceptionally rare in children, with limited data on long-term outcomes.
  • Previous studies on pediatric PAP are scarce, necessitating further investigation into its progression.

Purpose of the Study:

  • To characterize the clinical, radiological, and pathological features of pediatric PAP.
  • To investigate the long-term course and prognosis of PAP in a cohort of children from La Réunion Island.

Main Methods:

  • Retrospective data collection from medical records.
  • Review of radiological and pathological findings by pediatric radiologists and pathologists.

Main Results:

  • A cohort of 34 children with early-onset PAP (82% within 6 months) was studied, with 94% exhibiting familial connections, suggesting a genetic basis.
  • Typical 'crazy-paving' CT pattern observed in 94% of cases, frequently associated with liver enlargement (56%).
  • High mortality (59%) and poor 5-year survival (64%) noted, with frequent progression to chronic respiratory insufficiency, fibrosis, and cholesterol granulomas; whole-lung lavages showed no survival benefit.

Conclusions:

  • Pediatric PAP in La Réunion Island is marked by early onset, liver involvement, poor prognosis, and progression to fibrosis, even after whole-lung lavages.
  • Geographic clustering and familial links strongly indicate an autosomal recessive genetic etiology.
  • The study highlights the need for genetic investigation and tailored management strategies for this rare pediatric condition.
Abstract

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