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Pulmonary alveolar microlithiasis: A case report and review of the literature

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the formation of calcium phosphate microliths in the alveoli. Mutations in the gene encoding the solute carrier family 34 member 2 gene are considered to be involved in the pathogenesis of PAM. Although PA...

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Autores principales: Zhang, Xu-Dong, Gao, Jin-Ming, Luo, Jin-Mei, Zhao, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772952/
https://www.ncbi.nlm.nih.gov/pubmed/29434686
http://dx.doi.org/10.3892/etm.2017.5457
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author Zhang, Xu-Dong
Gao, Jin-Ming
Luo, Jin-Mei
Zhao, Yu
author_facet Zhang, Xu-Dong
Gao, Jin-Ming
Luo, Jin-Mei
Zhao, Yu
author_sort Zhang, Xu-Dong
collection PubMed
description Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the formation of calcium phosphate microliths in the alveoli. Mutations in the gene encoding the solute carrier family 34 member 2 gene are considered to be involved in the pathogenesis of PAM. Although PAM can develop in children, the majority of patients with PAM are diagnosed in adulthood due to the slow progressive nature of the disease within the lungs. In childhood, the majority of patients with PAM are asymptomatic and changes in the lung parenchyma are usually identified incidentally. Symptoms of PAM typically appear in the third or fourth decade of life and there is often a notable dissociation between the advanced radiological findings and the mild clinical presentation. A positive diagnosis of PAM is reached by the combination of a positive chest radiograph and histological examination. Genetic testing may help to identify other latent patients in the family of the patient with PAM. In the present study, the cases of 3 patients diagnosed with PAM have been reported, including their clinical presentation, radio imaging, pathological symptoms, genetic test results and treatment plans, as well as the associated literature.
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spelling pubmed-57729522018-02-12 Pulmonary alveolar microlithiasis: A case report and review of the literature Zhang, Xu-Dong Gao, Jin-Ming Luo, Jin-Mei Zhao, Yu Exp Ther Med Articles Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the formation of calcium phosphate microliths in the alveoli. Mutations in the gene encoding the solute carrier family 34 member 2 gene are considered to be involved in the pathogenesis of PAM. Although PAM can develop in children, the majority of patients with PAM are diagnosed in adulthood due to the slow progressive nature of the disease within the lungs. In childhood, the majority of patients with PAM are asymptomatic and changes in the lung parenchyma are usually identified incidentally. Symptoms of PAM typically appear in the third or fourth decade of life and there is often a notable dissociation between the advanced radiological findings and the mild clinical presentation. A positive diagnosis of PAM is reached by the combination of a positive chest radiograph and histological examination. Genetic testing may help to identify other latent patients in the family of the patient with PAM. In the present study, the cases of 3 patients diagnosed with PAM have been reported, including their clinical presentation, radio imaging, pathological symptoms, genetic test results and treatment plans, as well as the associated literature. D.A. Spandidos 2018-01 2017-11-07 /pmc/articles/PMC5772952/ /pubmed/29434686 http://dx.doi.org/10.3892/etm.2017.5457 Text en Copyright: © Zhang et al. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Zhang, Xu-Dong
Gao, Jin-Ming
Luo, Jin-Mei
Zhao, Yu
Pulmonary alveolar microlithiasis: A case report and review of the literature
title Pulmonary alveolar microlithiasis: A case report and review of the literature
title_full Pulmonary alveolar microlithiasis: A case report and review of the literature
title_fullStr Pulmonary alveolar microlithiasis: A case report and review of the literature
title_full_unstemmed Pulmonary alveolar microlithiasis: A case report and review of the literature
title_short Pulmonary alveolar microlithiasis: A case report and review of the literature
title_sort pulmonary alveolar microlithiasis: a case report and review of the literature
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772952/
https://www.ncbi.nlm.nih.gov/pubmed/29434686
http://dx.doi.org/10.3892/etm.2017.5457
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