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.
1. |
Corut A et al. (2006) Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. |
2. |
CAFFREY PR et al. (1965) PULMONARY ALVEOLAR MICROLITBIASIS OCCURRING IN PREMATURE TWINS. |
3. |
YANG SP et al. (1963) PULMONARY ALVEOLAR MICROLITHIASIS; A REPORT OF TWO YOUNGEST CASES IN A FAMILY. |
4. |
None (1962) Pulmonary alveolar microlithiasis. |
5. |
ESGUERRA GOMEZ G et al. (1959) Familial pulmonary alveolar microlithiasis: four cases from Colombia, S. A.; is microlithiasis also environmental disease. |
6. |
SOSMAN MC et al. (1957) The familial occurrence of pulmonary alveolar microlithiasis. |
7. |
Brandenburg VM et al. (2003) Images in clinical medicine. Pulmonary alveolar microlithiasis. |
8. |
Castellana G et al. (2002) Pulmonary alveolar microlithiasis: clinical features, evolution of the phenotype, and review of the literature. |
9. |
Ucan ES et al. (1993) Pulmonary alveolar microlithiasis: review of Turkish reports. |
10. |
Cale WF et al. (1983) Transbronchial biopsy of pulmonary alveolar microlithiasis. |
11. |
Prakash UB et al. (1983) Pulmonary alveolar microlithiasis. A review including ultrastructural and pulmonary function studies. |
12. |
O'Neill RP et al. (1967) Pulmonary alveolar microlithiasis--a family study. |
13. |
López-Areal L et al. (1965) [Infantile familial pulmonary alveolar microlithiasis. Description of 5 cases in 2 families]. |
14. |
Balikian JP et al. (1968) Pulmonary alveolar microlithiasis. Report of five cases with special reference to roentgen manifestations. |
15. |
Burguet W et al. (1967) [The heredity of pulmonary alveolar microlithiasis. Apropos of a new familial observation]. |
16. |
Ritchie DA et al. (1992) An unusual presentation of pulmonary alveolar microlithiasis and diaphyseal aclasia. |
18. |
OMIM.ORG article Omim 265100 |
19. |
Orphanet article Orphanet ID 60025 |