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Pulmonary Alveolar Microlithiasis - A Review.

Asbjørn Enemark1, Åsa Lina M Jönsson2, Sissel Kronborg-White3,4

  • 1Department of Pulmonology, Aalborg University Hospital, Aalborg, Denmark.

The Yale Journal of Biology and Medicine
|December 31, 2021
PubMed
Summary
This summary is machine-generated.

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Senicapoc in Patients with Idiopathic Pulmonary Fibrosis or Other Progressive Fibrotic Interstitial Lung Diseases: Protocol for a Randomised, Double-Blind, Placebo-Controlled, Multicentre Phase II Trial.

Diagnostics (Basel, Switzerland)·2026

Pulmonary Alveolar Microlithiasis (PAM) is a rare genetic lung disease caused by SLC34A2 gene variants. Diagnosis involves genetic testing, and while no cure exists, supportive care and lung transplantation are options.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Rare Diseases

Background:

  • Pulmonary Alveolar Microlithiasis (PAM) is a rare genetic disorder characterized by calcium-phosphate crystal deposition in lung alveoli.
  • A key feature is the disparity between mild symptoms and extensive radiographic findings, often described as a 'sandstorm' appearance.
  • PAM results from loss-of-function variants in the SLC34A2 gene, encoding a phosphate transporter, and is inherited in an autosomal recessive pattern, frequently associated with consanguinity.

Purpose of the Study:

  • To review the key aspects of Pulmonary Alveolar Microlithiasis (PAM).
  • To highlight diagnostic approaches, including genetic testing and invasive procedures.
  • To discuss current management strategies and prognosis for patients with PAM.

Main Methods:

Keywords:
Pulmonary alveolar microlithiasisgeneticsmicrolithsparenchymal lung disease

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  • Review of existing literature on Pulmonary Alveolar Microlithiasis.
  • Analysis of diagnostic criteria and genetic underpinnings.
  • Summarization of therapeutic interventions and outcomes.

Main Results:

  • PAM is caused by biallelic variants in SLC34A2, with single nucleotide changes being most common.
  • Diagnosis is confirmed by genetic testing; invasive biopsies can be used if genetic testing is unavailable.
  • No definitive cure exists; management focuses on supportive care, vaccinations, oxygen therapy, and potentially lung transplantation.

Conclusions:

  • Early diagnosis of PAM through genetic testing is crucial.
  • While no cure is available, symptomatic management and lung transplantation can be considered.
  • Genetic counseling and prenatal testing are important for affected families.