A Novel Variant in Pulmonary Alveolar Microlithiasis With Disseminated Pseudomonas Infection

Area of Science:

• Pediatric Pulmonology
• Medical Genetics
• Rare Diseases

Background:

• Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterized by calcium phosphate deposits.
• Severe presentations of PAM in children necessitate a deeper genetic understanding.

Purpose of the Study:

• To investigate the genetic basis of a severe pediatric case of pulmonary alveolar microlithiasis.
• To identify novel genetic variants associated with PAM.

Main Methods:

• Case report of a 6-month-old infant with severe respiratory illness.
• Genetic analysis to identify causative variants.
• Postmortem histopathological examination of lung tissue.

Main Results:

• The infant presented with bronchiolitis and disseminated Pseudomonas infection.
• Novel homozygosity for a variant in the SLC34A2 gene was identified.
• Pulmonary calcospherites consistent with PAM were found on postmortem analysis.

Conclusions:

• This case highlights a potential novel genetic cause of severe pulmonary alveolar microlithiasis in infancy.
• The SLC34A2 gene variant may play a role in the pathogenesis of PAM.
• Further research into the genetic underpinnings of PAM is warranted.