Adulte Hypophosphatasie
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.
Management
Zur Therapie steht das Strensiq® (asfotase alfa) zur Verfügung.
Gliederung
Hypophosphatasie
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Adulte Hypophosphatasie
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ALPL
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Infantile Hypophosphatasie
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Kindliche Hypophosphatasie
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Odontohypophosphatasie
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Referenzen:
| 1. |
Macfarlane JD et. al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships. [^] |
| 2. |
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. [^] |
| 3. |
Moore CA et. al. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. [^] |
| 4. |
Hu JC et. al. (2000) Characterization of a family with dominant hypophosphatasia. [^] |
| 5. |
Lia-Baldini AS et. al. (2001) A molecular approach to dominance in hypophosphatasia. [^] |
| 6. |
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. [^] |
| 7. |
Whyte MP et. al. (2007) Adult hypophosphatasia treated with teriparatide. [^] |
| 8. |
Whyte MP et. al. (1979) Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. [^] |
| 9. |
Whyte MP et. al. (1978) Adult hypophosphatasia dominant inheritance in a large kindred. [^] |
| 10. |
Whyte MP et. al. (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. [^] |
| 11. |
Danovitch SH et. al. (1968) Intestinal alkaline phosphatase activity in familial hypophosphatasia. [^] |
| 12. |
Jardon OM et. al. (1970) Hypophosphatasia in an adult. [^] |
| 13. |
Eade AW et. al. (1981) Pyrophosphate arthropathy in hypophosphatasia. [^] |
| 14. |
Fallon MD et. al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. [^] |
| 15. |
Whyte MP et. al. (1982) Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. [^] |
| 16. |
Whyte MP et. al. (1982) Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. [^] |
| 17. |
Weinstein RS et. al. (1981) Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. [^] |
| 18. |
Pauli RM et. al. (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. [^] |
| 19. |
Morava E et. al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. [^] |
| 20. |
Unger S et. al. (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia. [^] |
| 21. |
None (1957) Hypophosphatasia. [^] |
