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[Pulmonary alveolar microlithiasis: A report on two familial cases in Morocco]

A Tebay1, K Bouti2, S Hammi2

  • 1Cabinet de pneumologie, Tétouan, Maroc.

Revue Des Maladies Respiratoires
|August 5, 2023
PubMed
Abstract

Insights

Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease. Early diagnosis via imaging and bronchoalveolar lavage is crucial for managing this condition, with lung transplantation as the primary treatment.

Area of Science:

  • Pulmonology
  • Radiology
  • Genetics

Background:

  • Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disorder.
  • Often asymptomatic, PAM is typically discovered during routine radiological examinations.

Observation:

  • Two familial cases of PAM are presented, involving a 17-year-old girl and her 14-year-old sister.
  • Radiological findings included alveolar and bronchointerstitial syndromes with diffuse calcifications, pleural and pericardial calcifications.
  • Thoracic CT revealed micro- and macronodules, while respiratory tests indicated a restrictive syndrome.

Findings:

  • Diagnosis was confirmed by microliths in bronchoalveolar lavage (BAL).
  • Radiological-clinical dissociation is characteristic of PAM.
  • Genetic confirmation through SLC34A2 mutation is also noted.

Implications:

  • Long-term prognosis for PAM is often poor.
  • Lung transplantation remains the only definitive treatment option currently available.
  • Timely diagnosis through imaging and BAL is vital for patient management.
Keywords:
Calcifications pulmonairesCalcified microlithsDiffuse bilateral calcificationsMicrolithesMicrolithiase alvéolairePulmonary alveolar microlithiasis

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