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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Wolters Kluwer Medknow Publications
2023-01-01
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Series: | Lung India |
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Online Access: | http://www.lungindia.com/article.asp?issn=0970-2113;year=2023;volume=40;issue=2;spage=161;epage=164;aulast=Sarkar |
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author | Malay Sarkar Sudarshan K Sharma Anupam Jhobta Anchana Gulati |
author_facet | Malay Sarkar Sudarshan K Sharma Anupam Jhobta Anchana Gulati |
author_sort | Malay Sarkar |
collection | DOAJ |
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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issn | 0970-2113 0974-598X |
language | English |
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spelling | doaj.art-6543320feecd4e45b84ffdc43e8b5a392023-07-21T12:44:54ZengWolters Kluwer Medknow PublicationsLung India0970-21130974-598X2023-01-0140216116410.4103/lungindia.lungindia_276_22A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosisMalay SarkarSudarshan K SharmaAnupam JhobtaAnchana GulatiPulmonary 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.http://www.lungindia.com/article.asp?issn=0970-2113;year=2023;volume=40;issue=2;spage=161;epage=164;aulast=Sarkarflow-volume looprestrictive ventilatory defectupper airway obstruction |
spellingShingle | Malay Sarkar Sudarshan K Sharma Anupam Jhobta Anchana Gulati A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis Lung India flow-volume loop restrictive ventilatory defect upper airway obstruction |
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 | flow-volume loop restrictive ventilatory defect upper airway obstruction |
url | http://www.lungindia.com/article.asp?issn=0970-2113;year=2023;volume=40;issue=2;spage=161;epage=164;aulast=Sarkar |
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