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A Novel Variant in Pulmonary Alveolar Microlithiasis With Disseminated Pseudomonas Infection

Jacob McCoy1, Anna-Theresa Lobos2, Joseph de Nanassy3

  • 1Division of Respiratory Medicine, The University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.

Pediatrics
|April 15, 2025
PubMed

Insights

Understanding the genetics of pulmonary alveolar microlithiasis (PAM) is vital, especially in children. This study identifies a novel genetic variant in SLC34A2 in an infant with severe PAM and Pseudomonas infection, highlighting genetic factors in severe disease.

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.

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