Pulmonary alveolar microlithiasis: review of the 1022 cases reported worldwide

Castellana, Giuseppe; Castellana, Giorgio; Gentile, Mattia; Castellana, Roberto; Resta, Onofrio

doi:10.1183/16000617.0036-2015

Cited by 118 publications

(258 citation statements)

References 49 publications

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“…While sex differences varies with region, male sex has been reported more frequently in Turkey (67% male and 33% female). Although it can be seen in almost all age groups, it is often diagnosed in the second and third decades [1]. DOI: 10.5152/TurkThoracJ.2017.17015…”

Section: Discussionmentioning

confidence: 99%

“…We could not perform genetic studies on our patient. Approximately 32% of cases are familial [1]. Our case was considered a sporadic PAM as there was no familial feature.…”

Section: Hüseyin Arpağmentioning

confidence: 94%

“…Although bisphosphonates are recommended in the treatment of PAM, efficacy data are limited. Therefore, although there is no prognostic data to identify the same indications, lung transplantation remains the only current teratment option [1][2][3][4].…”

Section: Hüseyin Arpağmentioning

confidence: 99%

“…It is an autosomal recessive disorder [1]. Clinical presentation varies from asymptomatic to life-threating respiratory failure [2].…”

Section: Introductionmentioning

confidence: 99%

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A Case of Pulmonary Alveolar Microlithiasis Diagnosed by Transbronchial Biopsy

et al. 2017

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Pulmonary alveolar microlithiasis is a rare infiltrative pulmonary disease, in which intraalveolar accumulation of small stones (microliths) consisting of calcium phosphatite occurs. It is an autosomal recessive disorder. The disease occurs as a result of the disruption of type IIb sodium phosphate cotransporter in type II alveolar cells after the mutation of SLC34A2. Majority of patients are diagnosed between age 20 and 40. Here, we present a case of alveolar microlithiasis that was diagnosed with transbronchial biopsy.

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Section: Discussionmentioning

confidence: 99%

“…We could not perform genetic studies on our patient. Approximately 32% of cases are familial [1]. Our case was considered a sporadic PAM as there was no familial feature.…”

Section: Hüseyin Arpağmentioning

confidence: 94%

Section: Hüseyin Arpağmentioning

confidence: 99%

“…It is an autosomal recessive disorder [1]. Clinical presentation varies from asymptomatic to life-threating respiratory failure [2].…”

Section: Introductionmentioning

confidence: 99%

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A Case of Pulmonary Alveolar Microlithiasis Diagnosed by Transbronchial Biopsy

et al. 2017

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“…Eighty cases have been reported from India till 2014. [3][4][5] It was first reported from India by Viswanathan. [6] The disease affects both sexes, with a slight predominance among males worldwide.…”

Section: Introductionmentioning

confidence: 99%

Pulmonary Alveolar Microlithiasis in an Elderly: A Case Report with Brief Review of Literature

Sarangi¹,

Nahak²,

Mohanty³

et al. 2016

AIMDR

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Pulmonary alveolar microlithiasis (PAM) is a rare chronic lung disease characterized by presence of widespread intraalveolar accumulation of innumerable minute calculi called microliths. It is caused by inactivating mutations in the gene "solute carrier family 34 member 2", encoding a sodium-dependent phosphate co-transporter (SLC34A2) expressed primarily in alveolar epithelial type II cells. It is most frequently diagnosed from birth to 40 years of age with a mean age of 27-30 years at the time of diagnosis. Most of patients are asymptomatic or having mild symptoms and are usually diagnosed incidentally. Chest radiograph and high-resolution CT of thorax are nearly pathognomonic for diagnosing PAM and histopathological confirmation is required only in few cases. This disease has slow progressive course ultimately leading to death by causing pulmonary fibrosis and cor pulmonale. Currently, there is no medical or gene therapy capable of reducing disease progression. Lung transplantation remains the only possible treatment for end-stage disease. Herein,we report a case of PAM in a 60-year-old gentleman who presented with a 5-year history of shortness of breath on exertion and intermittent cough with expectoration. His sister had similar respiratory symptoms and died 10 years back of which no details are available. The rarity of this disease and late age of presentation prompted us to report this case.

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