Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pulmonary alveolar microlithiasis

Pulmonary alveolar microlithiasis is an autosomal recessive disorder caused by mutations of the SLC34A2 gene. The clinical cause is characterized by calcification that form in the distal airwaysand deteriorate lung function.

Systematic

Hereditary broncho-pulmonary disease
Bronchiectasis with or without elevated sweat chloride
Cystinosis
Fabry disease
Hereditary pulmonary embolism
Pulmonary alveolar microlithiasis
SLC34A2
Reduced response to beta-2-adrenoreceptor agonist
Susceptibility to nocturnal asthma

References:

1.

Senyiğit A et. al. (2001) Pulmonary alveolar microlithiasis: a rare familial inheritance with report of six cases in a family. Contribution of six new cases to the number of case reports in Turkey.

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2.

Corut A et. al. (2006) Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.

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3.

Ritchie DA et. al. (1992) An unusual presentation of pulmonary alveolar microlithiasis and diaphyseal aclasia.

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4.

Burguet W et. al. (1967) [The heredity of pulmonary alveolar microlithiasis. Apropos of a new familial observation].

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5.

Balikian JP et. al. (1968) Pulmonary alveolar microlithiasis. Report of five cases with special reference to roentgen manifestations.

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6.

López-Areal L et. al. (1965) [Infantile familial pulmonary alveolar microlithiasis. Description of 5 cases in 2 families].

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7.

O'Neill RP et. al. (1967) Pulmonary alveolar microlithiasis--a family study.

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8.

Prakash UB et. al. (1983) Pulmonary alveolar microlithiasis. A review including ultrastructural and pulmonary function studies.

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9.

Cale WF et. al. (1983) Transbronchial biopsy of pulmonary alveolar microlithiasis.

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10.

Ucan ES et. al. (1993) Pulmonary alveolar microlithiasis: review of Turkish reports.

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11.

Castellana G et. al. (2002) Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature.

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12.

Brandenburg VM et. al. (2003) Images in clinical medicine. Pulmonary alveolar microlithiasis.

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13.

SOSMAN MC et. al. (1957) The familial occurrence of pulmonary alveolar microlithiasis.

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14.

ESGUERRA GOMEZ G et. al. (1959) Familial pulmonary alveolar microlithiasis: four cases from Colombia, S. A.; is microlithiasis also environmental disease.

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15.

None (1962) Pulmonary alveolar microlithiasis.

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16.

YANG SP et. al. (1963) PULMONARY ALVEOLAR MICROLITHIASIS; A REPORT OF TWO YOUNGEST CASES IN A FAMILY.

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17.

CAFFREY PR et. al. (1965) PULMONARY ALVEOLAR MICROLITBIASIS OCCURRING IN PREMATURE TWINS.

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Update: Sept. 26, 2018