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Related Experiment Video

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Pulmonary Alveolar Microlithiasis.

Kevan Mehta1, Sharon Dell1, Catherine Birken1

  • 1Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada M5G 1X8.

Canadian Respiratory Journal
|July 23, 2016
PubMed
Summary

Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease. Early diagnosis in children with lung imaging changes is crucial for potential preventative strategies, as treatments are currently unproven.

Area of Science:

  • Pulmonary medicine
  • Rare genetic disorders
  • Respiratory imaging

Background:

  • Pulmonary alveolar microlithiasis (PAM) is an autosomal recessive condition.
  • PAM is characterized by the accumulation of tiny calcium phosphate stones in the alveoli.
  • It often presents asymptomatically with significant radiographic findings.

Observation:

  • Diagnosis is frequently delayed until adulthood when symptoms manifest.
  • Children with marked radiographic findings and minimal symptoms should be evaluated for PAM.
  • Imaging studies can suggest the diagnosis, but lung biopsy may be required for confirmation.

Findings:

  • PAM can be asymptomatic despite severe lung changes visible on imaging.
  • The condition is often discovered incidentally during routine imaging or workup for other issues.

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  • Definitive diagnosis may require invasive procedures like lung biopsy.

    • Implications:

    • Earlier identification of PAM, particularly in pediatric cases, is vital.
    • Prompt diagnosis allows for the exploration of preventative measures.
    • While proven treatments are lacking, early intervention may improve patient outcomes.