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Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report

Irem Hicran Özbudak1, Cumhur Ibrahim Başsorgun, Gülay Ozbılım

  • 1Department of Pathology, Akdeniz University, Faculty of Medicine, Antalya, Turkey. iremhicrang@hotmail.com

Turk Patoloji Dergisi
|September 27, 2012
PubMed

Insights

Pulmonary alveolar microlithiasis, a rare lung disease, involves calcospherites in the alveoli. This case confirms its autosomal recessive inheritance, linked to a specific gene mutation.

Area of Science:

  • Pulmonology
  • Genetics
  • Pathology

Background:

  • Pulmonary alveolar microlithiasis (PAM) is a rare lung disease characterized by diffuse calcospherites in alveolar spaces.
  • While sporadic cases are common, familial forms suggest a genetic basis.
  • The highest prevalence of reported cases is from Europe, particularly Turkey.

Observation:

  • A 43-year-old female presented with chronic dyspnea and a family history suggestive of PAM.
  • Surgical lung biopsy revealed a gritty, firm specimen with diffuse parenchymal involvement by numerous tiny calcospherites.
  • Genetic analysis identified a homozygous c.316G > C (p.G106R) mutation in exon 4.

Findings:

  • The pathological and genetic findings confirmed the diagnosis of pulmonary alveolar microlithiasis.
  • The identified homozygous mutation provides strong evidence for an autosomal recessive inheritance pattern.
  • This case supports a purely genetic etiology for PAM, discounting non-genetic factors.

Implications:

  • This report adds a pathologically and genetically confirmed case to the literature on pulmonary alveolar microlithiasis.
  • The findings offer insights into the genetic underpinnings and etiology of this rare respiratory disease.
  • Confirmation of autosomal recessive inheritance aids in understanding disease transmission and genetic counseling.

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