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Diagnosis and treatment of pulmonary alveolar microlithiasis

Nagehan Emiralioglu1, Burcin Beken1, Hatice Nursun Ozcan2

  • 1Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Pediatrics International : Official Journal of the Japan Pediatric Society
|August 25, 2016
PubMed

Insights

Pulmonary alveolar microlithiasis (PAM), a rare genetic lung disease, involves intra-alveolar phosphate microlith formation. This study reports on three Turkish patients treated with disodium etidronate.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Rare Diseases

Background:

  • Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive genetic disorder.
  • It is characterized by the accumulation of calcium phosphate microliths within the lung alveoli.
  • Mutations in the sodium-phosphate co-transporter gene (SLC34A2) are the known cause of PAM.

Observation:

  • Turkey exhibits a notably high prevalence of PAM.
  • This report details three cases of PAM diagnosed in Turkish patients.
  • Clinical and radiological findings were documented for each patient.

Findings:

  • All three patients were treated with disodium etidronate.
  • The study focuses on the clinical and radiological outcomes following this treatment.
  • Specific treatment efficacy data is presented.

Implications:

  • Disodium etidronate may represent a potential therapeutic option for Pulmonary alveolar microlithiasis.
  • Further research into bisphosphonates for PAM treatment is warranted.
  • Understanding the high prevalence in Turkey could inform targeted screening and genetic counseling efforts.
Keywords:
diagnostic imagingdisodium etidronatepulmonary alveolar microlithiasis

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