Abstract
Pulmonary alveolar microlithiasis (PAM) has been well characterized in terms of its
description, genetic background, and diagnostic process for decades; however, no effective
prevention or treatment has yet been established. PAM is classified as an ultrarare
lung disease linked to mutations in the autosomal recessive sodium–phosphate co-transporter
gene SLC34A2, which may serve as a potential target for future therapies. As new variants of SLC34A2 mutations continue to be identified, a broader genetic understanding could help predict
the variable clinical course among patients and guide the development of therapies
beyond palliative care. The creation of a disease severity score would be valuable
for assessing disease burden, stratifying patients, and designing research studies.
Given the clinico-radiological dissociation and heterogeneity of PAM, such a score
should be developed as a composite index. Coupled with objective severity measures
and identification of factors underlying individual variability, this approach could
enhance insight into preventive and therapeutic strategies. Clinical advances in PAM
remain limited, underscoring the need for international registries and cohorts as
an urgent priority. Systematic re-evaluation of diagnosed cases and structured follow-up,
rather than arbitrary visits, would generate standardized data critical for future
research. A standardized patient evaluation form may facilitate the collection of
data in a shared database.
Keywords
pulmonary alveolar microlithiasis - pathogenesis - lung transplantation - treatment
- registry - future perspective
