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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Main Authors: Malay Sarkar, Sudarshan K Sharma, Anupam Jhobta, Anchana Gulati
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2023-01-01
Series:Lung India
Subjects:
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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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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