Die Erwachsenen-Hypophosphatasie ist die mildeste Form der Hypophosphatasie. Die Erkrankung wird durch Mutationen des ALPL-Gens hervorgerufen. Die Vererbung ist gelegentlich auch dominant möglich. Die Symptome sind vor allem rachitische Beschwerden und eine erhöhte Frakturneigung.
Zur Therapie steht das Strensiq® (asfotase alfa) zur Verfügung.
Hypophosphatasie | ||||
Adulte Hypophosphatasie | ||||
ALPL | ||||
Infantile Hypophosphatasie | ||||
Kindliche Hypophosphatasie | ||||
Odontohypophosphatasie | ||||
1. |
Henthorn PS et al. (1992) Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. |
2. |
None (1957) Hypophosphatasia. |
3. |
Unger S et al. (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia. |
4. |
Morava E et al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. |
5. |
Pauli RM et al. (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. |
6. |
Weinstein RS et al. (1981) Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. |
7. |
Whyte MP et al. (1982) Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. |
8. |
Whyte MP et al. (1982) Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. |
9. |
Fallon MD et al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. |
10. |
Eade AW et al. (1981) Pyrophosphate arthropathy in hypophosphatasia. |
11. |
Jardon OM et al. (1970) Hypophosphatasia in an adult. |
12. |
Danovitch SH et al. (1968) Intestinal alkaline phosphatase activity in familial hypophosphatasia. |
13. |
Whyte MP et al. (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. |
14. |
Whyte MP et al. (1978) Adult hypophosphatasia dominant inheritance in a large kindred. |
15. |
Whyte MP et al. (1979) Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. |
16. |
Whyte MP et al. (2007) Adult hypophosphatasia treated with teriparatide. |
17. |
Herasse M et al. (2003) Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. |
18. |
Lia-Baldini AS et al. (2001) A molecular approach to dominance in hypophosphatasia. |
19. |
Hu JC et al. (2000) Characterization of a family with dominant hypophosphatasia. |
20. |
Moore CA et al. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. |
21. |
Macfarlane JD et al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships. |
22. |
OMIM.ORG article Omim 146300 |
23. |
Orphanet article Orphanet ID 247676 |