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Pulmonary alveolar proteinosis in children: An unusual presentation with significant clinical impact
Jayaram N Iyengar1, Bharath Kumar K R Reddy1
1Department of Pathology, Anand Diagnostic Laboratory, Bengaluru, Karnataka, India.
Insights
Pulmonary alveolar proteinosis (PAP) is a rare lung disease where phospholipoprotein material fills the alveoli. This case series presents two children with PAP, highlighting diagnostic and treatment considerations.
Area of Science:
- Pulmonology
- Pediatric Medicine
- Rare Diseases
Background:
- Pulmonary alveolar proteinosis (PAP) is a rare diffuse lung disease.
- Characterized by alveolar accumulation of phospholipoprotein material.
- Presents with subtypes: autoimmune, secondary, and congenital.
Observation:
- PAP has a peak incidence in the third to fourth decade with male predominance, but also affects children.
- Common symptoms include dyspnea, cough, fever, crackles, and digital clubbing.
- Radiographic findings show bilateral consolidations; bronchial lavage yields milky fluid.
Findings:
- Microscopic examination reveals alveolar spaces filled with PAS-positive granular material.
- Pulmonary function tests often indicate a restrictive ventilatory defect.
- Whole lung lavage is the primary treatment for PAP.
Implications:
- Early diagnosis and management are crucial for pediatric PAP patients.
- Understanding PAP subtypes aids in targeted treatment strategies.
- This case series contributes to the limited data on pediatric PAP.
Abstract:
Pulmonary alveolar proteinosis (PAP) - an unusual diffuse lung disease characterized by alveolar accumulation of phospholipoprotein material, with a peak incidence in third to fourth decade and male predominance is also described in children. Recorded prevalence is 0.1/100,000 individuals. Major clinicopathogenetic subtypes include autoimmune (idiopathic) associated with granulocyte-macrophage colony-stimulating factor autoantibodies, secondary form, and the congenital form (associated with surfactant gene mutations). Common presenting features include dyspnea, cough, low-grade fever, inspiratory crackles, and digital clubbing. Pulmonary function shows a restrictive ventilatory defect. X-rays show bilateral patchy to extensive consolidations, and bronchial lavage yields a milky fluid. Characteristic microscopic findings on lung biopsy include filling of terminal bronchioles and alveolar spaces by deep pink granular PAS-positive material. Whole lung lavage is the safest and most effective form of treatment. We present brief profiles of two young children identified as having PAP, along with follow-up data on one of them.
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