Pulmonary alveolar microlithiasis: Clinical features, evolution of the phenotype, and review of the literature

Abstract

Pulmonary alveolar microlithiasis (PAM) (MIM 265100) is a rare, autosomal recessive pneumopathy characterized by intra-alveolar formation and accumulation of tiny, roundish corpuscles called "microliths". The name "alveolar microlithiasis" was first used by Puhr in 1933; since then, several reports have appeared, and over 300 individuals with this condition have been reported. We have reviewed the PAM cases in the literature in light of personal experience, focusing on medical implications, disease diagnosis and progression over time, familial predisposition, and geographical and sex distribution. This study confirms autosomal recessive inheritance and does not support the role of other, non-genetic, factors in the pathogenesis of PAM.

A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene

“…PAM is a rare disorder in which numerous fragments (microliths) consisting of calcium phosphate gradually accumulate in the alveoli throughout the lungs 2, 3, 4. PAM is an autosomal recessive disorder caused by loss of function mutations in the gene encoding type IIb sodium‐phosphate cotransporter, SCL34A2 .…”

Pulmonary alveolar microlithiasis

“…It is caused by mutations in the SLC34A2 sodium dependant phosphate transporter that is normally expressed in the type II alveolar macrophages [4]. Half of the cases, however, are familial [5].…”

Bilateral Micronodular Pulmonary Infiltrate: Is It Important to Make a Histological Diagnosis?

“…4 To date, less than 600 cases have been reported worldwide. [5][6][7][8] The disease has no particular geographical distribution, although most of the cases were reported from Turkey, Japan, and Europe. 6 The disease has been described with slight male predominance in all age groups, and more than 85% of the cases have presented before the age of 50 years.…”