Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1783293484823740416 |
---|---|
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. |
format | Online Article Text |
id | pubmed-5772952 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | D.A. Spandidos |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT zhangxudong pulmonaryalveolarmicrolithiasisacasereportandreviewoftheliterature AT gaojinming pulmonaryalveolarmicrolithiasisacasereportandreviewoftheliterature AT luojinmei pulmonaryalveolarmicrolithiasisacasereportandreviewoftheliterature AT zhaoyu pulmonaryalveolarmicrolithiasisacasereportandreviewoftheliterature |