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A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterised by the deposition of calcium phosphate microliths in the alveoli. PAM has been reported in all continents and there is often a familial history. There is clinical-radiological dissociation as there is often a...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174655/ https://www.ncbi.nlm.nih.gov/pubmed/37006101 http://dx.doi.org/10.4103/lungindia.lungindia_276_22 |
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author | Sarkar, Malay Sharma, Sudarshan K. Jhobta, Anupam Gulati, Anchana |
author_facet | Sarkar, Malay Sharma, Sudarshan K. Jhobta, Anupam Gulati, Anchana |
author_sort | Sarkar, Malay |
collection | PubMed |
description | Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterised by the deposition of calcium phosphate microliths in the alveoli. PAM has been reported in all continents and there is often a familial history. There is clinical-radiological dissociation as there is often a paucity of symptoms in contrast to the imaging findings. Patients often remain asymptomatic until the third or fourth decade of life, and dyspnea is the most common symptom. PAM is caused by a mutation within the solute carrier family 34 member 2 gene (the SLC34A2 gene) located on chromosome 4p15.2, which encodes a sodium/phosphate co-transporter. The imaging appearance of the disease is quite pathognomic with the high-resolution computed tomography (HRCT) demonstrating a diffuse micronodular appearance. Transbronchial lung biopsy also confirms the diagnosis. There is no effective therapy at present except lung transplantation. We herein, present a case of PAM along with clinical history, imaging study, histopathological study and genetic study of a 43-year-old female adult patient along with genetic analysis. |
format | Online Article Text |
id | pubmed-10174655 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-101746552023-05-12 A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis Sarkar, Malay Sharma, Sudarshan K. Jhobta, Anupam Gulati, Anchana Lung India Case Report Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterised by the deposition of calcium phosphate microliths in the alveoli. PAM has been reported in all continents and there is often a familial history. There is clinical-radiological dissociation as there is often a paucity of symptoms in contrast to the imaging findings. Patients often remain asymptomatic until the third or fourth decade of life, and dyspnea is the most common symptom. PAM is caused by a mutation within the solute carrier family 34 member 2 gene (the SLC34A2 gene) located on chromosome 4p15.2, which encodes a sodium/phosphate co-transporter. The imaging appearance of the disease is quite pathognomic with the high-resolution computed tomography (HRCT) demonstrating a diffuse micronodular appearance. Transbronchial lung biopsy also confirms the diagnosis. There is no effective therapy at present except lung transplantation. We herein, present a case of PAM along with clinical history, imaging study, histopathological study and genetic study of a 43-year-old female adult patient along with genetic analysis. Wolters Kluwer - Medknow 2023 2023-03-03 /pmc/articles/PMC10174655/ /pubmed/37006101 http://dx.doi.org/10.4103/lungindia.lungindia_276_22 Text en Copyright: © 2023 Indian Chest Society https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Sarkar, Malay Sharma, Sudarshan K. Jhobta, Anupam Gulati, Anchana A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis |
title | A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis |
title_full | A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis |
title_fullStr | A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis |
title_full_unstemmed | A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis |
title_short | A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis |
title_sort | case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174655/ https://www.ncbi.nlm.nih.gov/pubmed/37006101 http://dx.doi.org/10.4103/lungindia.lungindia_276_22 |
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