Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Pulmonale alveoläre Mikrolithiasis

Die pulmonale alveoläre Mikrolithiasis ist eine autosomal rezessive Erkrankung, die durch Mutationen des SLC34A2-Gens hervorgerufen wird. Im Verlaufe des Lebens kommt es zu einer zunehmenden Verkalkung der Alveolarräume und zu einer Abnahme der Lungenfunktion.

Gliederung

Erbliche Bronchial- und Lungenerkrankungen
Bronchiektasien mit und ohne erhöhtem Chlorid im Schweiß
Cystinose
Hereditäre pulmonale Embolie
Morbus Fabry
Neigung zu nächtlichem Asthma
Pulmonale alveoläre Mikrolithiasis
SLC34A2
Vermindertes Ansprechen auf beta-2-Mimetika

Referenzen:

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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