Pulmonary Alveolar Microlithiasis—A Family Study

O’Neill, Richard P.; Cohn, Jerome E.; Pellegrino, Edmund D.

doi:10.7326/0003-4819-67-5-957

Cited by 24 publications

(4 citation statements)

References 36 publications

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“…The percentage of family cases in comparison to the total number of PAM cases is 36.56% in our review, a lower value than those previously reported by other authors (table 2) [8, 27, 30, 31, 32, 33, 34]. The parents were cousins in 12 family cases [10, 11, 26, 27, 30, 34, 35, 36, 37, 38, 39, 40]. In 4 cases, karyotyping had been performed [20, 27].…”

Section: World Casescontrasting

confidence: 55%

“…Calcification of the epididymis was found in a case reported by Biressi and Casassa [52], calcification of the seminal vesicles by Arslan et al [67], while Bunger et al [68]and Castellana [69]published a report of calcific deposits in the prostate. O’Neill et al [30]undertook a thorough study of calcium metabolism in 3 members of a family with the disorder, while Mickailov [7]found raised serum calcium in 3 cases. Renal stones have been reported in several cases [8, 43, 66, 70].…”

Section: Calcification In Extrapulmonary Sitesmentioning

confidence: 99%

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Pulmonary Alveolar Microlithiasis

Castellana¹,

Lamorgese²

2003

Respiration

106

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Pulmonary alveolar microlithiasis (PAM) is a rare idiopathic disease with unknown etiology and pathogenesis. The present work updates the world literature on PAM up to the end of 2001 by means of a full review, including minor reports in local languages (not English). Excluding secondary cases, a total of 424 cases have been reported worldwide, 269 of which were sporadic and showed a prevalence of the male sex and 155 of which were familial cases and prevalently affected the female sex. The highest number of cases has been reported in Europe, followed by Asia, especially Asia Minor, while the single nations with the greatest number of reported cases are Turkey, then Italy and the USA. The salient clinical features of PAM as described in the literature are analyzed: family history, clinical course, association with other diseases, presence of calcification in other organs. In the first cases, reported in the 60s and 70s, diagnosis was primarily made at autopsy, whereas nowadays diagnostic investigation is made above all by transbronchial biopsy and bronchoalveolar lavage. Radiological imaging is sufficient in cases where other family members are known to be affected, diagnosed by means of invasive techniques. There is no known treatment to date, while lung transplantation is performed in the severest cases. A better knowledge of the epidemiological characteristics of this rare disease could help to diagnose a larger number of cases and to gain insight into its etiology and pathogenesis, which are still unknown.

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Section: World Casescontrasting

confidence: 55%

Section: Calcification In Extrapulmonary Sitesmentioning

confidence: 99%

Pulmonary Alveolar Microlithiasis

Castellana¹,

Lamorgese²

2003

Respiration

106

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“…It is also postulated that a condensation of alveolar mucus due to a deficiency in mucociliary clearance is the cause of the disease. However, the most accepted hypothesis is that mucopolysaccharide deposition, triggered by increased alkalinity secondary to inborn errors in metabolism involving the carbonic anhydrase enzyme at the alveolar interface, promotes the local accumulation of calcium salts 4,5…”

Section: Discussionmentioning

confidence: 99%

Lung transplantation for pulmonary alveolar microlithiasis: a case report

Samano

Waisberg

Canzian

et al. 2010

Clinics

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“…With progressive involvement and the development of fibrosis, a restrictive ventilatory defect with a reduced diffusing capacity for carbon monoxide and severe gas exchange abnormalities become obvious [17, 18]. …”

Section: Discussionmentioning

confidence: 99%

Pulmonary Alveolar Lithiasis in Two Siblings

Erelel

Kıyan²,

Çuhadaroğlu³

et al. 2001

Respiration

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Pulmonary alveolar microlithiasis (PAM) is a rare disease of unknown etiology and is characterized by the deposition of calcium phosphate microliths within the alveolar airspaces. We report 2 asymptomatic siblings, a 7-year-old girl and her 13-year-old brother, with PAM. In the girl, chest X-ray and computed tomography revealed diffuse interstitial changes but no uptake of technetium 99m (^99mTc) on bone scan was noted in the lung. Microliths stained pink with Papanicolaou dye in bronchoalveolar lavage fluid (BALF) but did not stain with von Kossa. In the brother, characteristic radiological findings and ^99mTc uptake in the lung were detected. The microliths stained pink with Papanicolaou in BALF and black with von Kossa as well. We hypothesize that the first case is in the early phase of PAM because of lack of ^99mTc uptake.

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Pulmonary Alveolar Microlithiasis—A Family Study

Cited by 24 publications

References 36 publications

Pulmonary Alveolar Microlithiasis

Pulmonary Alveolar Microlithiasis

Lung transplantation for pulmonary alveolar microlithiasis: a case report

Pulmonary Alveolar Lithiasis in Two Siblings

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