Pulmonary Alveolar Microlithiasis - A Review

Pulmonary Alveolar Microlithiasis (PAM) is a rare genetic disorder causing widespread deposition of calcium-phosphate crystals in the alveolar space. A hallmark of the disease is the discrepancy between perceived symptoms upon diagnosis compared with the extensive, sandstorm-like appearance of the m...

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Bibliographic Details
Published in:The Yale journal of biology & medicine 2021-12, Vol.94 (4), p.637-644
Main Authors: Enemark, Asbjørn, Jönsson, Åsa Lina M, Kronborg-White, Sissel, Bendstrup, Elisabeth
Format: Article
Language:English
Subjects:
Alveoli
Asymptomatic
Biopsy
Calcification
Calcinosis
Calcium phosphates
Consanguinity
Crystals
Diagnosis
Families & family life
Genetic counseling
Genetic Diseases, Inborn
Genetic disorders
Genetic screening
Hereditary diseases
Humans
Lung diseases
Lung Diseases - genetics
Lung transplantation
Lungs
Medical treatment
Protein transport
Proteins
Respiratory failure
Review
Scintigraphy
Sodium-Phosphate Cotransporter Proteins, Type IIb - genetics
Surfactants
X-rays
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Description
Summary:Pulmonary Alveolar Microlithiasis (PAM) is a rare genetic disorder causing widespread deposition of calcium-phosphate crystals in the alveolar space. A hallmark of the disease is the discrepancy between perceived symptoms upon diagnosis compared with the extensive, sandstorm-like appearance of the microliths on chest X-ray or HRCT. Caused by a defective sodium-dependent phosphate transport protein due to loss-of-function variants of the gene, PAM is an autosomal recessive transmitted disorder, and as such has a high correlation to consanguinity. The most common variants of the gene are single nucleotide biallelic changes, but larger deletions are described. Initial suspicion of PAM on radiological examination should be followed by genetic testing to verify the diagnosis and identify the disease-causing variant. When not available, the diagnosis can be made by means of invasive techniques, such as transbronchial forceps or cryobiopsy, or a surgical lung biopsy. In families with a history of PAM, genetic counseling should be offered, as well as preimplantation/prenatal testing if necessary. As of writing this review, no definitive treatment exists, and PAM may in some cases progress to severe pulmonary disease with respiratory failure and potential death. Patients with PAM should be offered preventative and symptomatic treatments such as vaccinations and oxygen therapy when needed. In some cases, lung transplantation may be required.
ISSN:0044-0086
1551-4056