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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...

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Autores principales: Sarkar, Malay, Sharma, Sudarshan K., Jhobta, Anupam, Gulati, Anchana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
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.
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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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