Diagnosis and treatment of pulmonary alveolar microlithiasis

Pediatr Int. 2016 Aug;58(8):805-7. doi: 10.1111/ped.13032.

Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare genetic disease caused by mutations in sodium-phosphate co-transporter (SLC34A2), which encodes a type 2b sodium phosphate co-transporter. Disease is characterized by intra-alveolar microlith formation of phosphate. Turkey has a high prevalence of PAM. Herein, we report the clinical and radiological findings of three patients diagnosed with PAM and treated with disodium etidronate.

Keywords: diagnostic imaging; disodium etidronate; pulmonary alveolar microlithiasis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biopsy
  • Bone Density Conservation Agents / therapeutic use
  • Calcinosis / diagnosis*
  • Calcinosis / drug therapy
  • Child
  • Etidronic Acid / therapeutic use*
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / drug therapy
  • Humans
  • Lung Diseases / diagnosis*
  • Lung Diseases / drug therapy
  • Male
  • Pulmonary Alveoli / diagnostic imaging
  • Tomography, X-Ray Computed / methods*

Substances

  • Bone Density Conservation Agents
  • Etidronic Acid

Supplementary concepts

  • Pulmonary Alveolar Microlithiasis