Die Hypophosphatasie ist eine Gruppe von Erkrankungen, deren Ursache eine Mutation im ALPL-Gen ist. Die Vererbung kann autosomal dominant oder rezessive sein. Entsprechend der klinischen Manifestation vom Kleinkinds- bis Erwachsenenalter werden verschiedene Formen unterschieden. Das klinische Bild ähnelt einer Vitamin D-resistenten Rachitis. Laborchemisch fällt eine Hypercalciämie und ein erhöhter Phosphoethanolaminspiegel im Serum und Urin auf.
Parameter | Interpretation |
---|---|
Serum-Calcium | erhöht |
Serum-Phosphat | erhöht |
Serum-Alkalische-Phosphatase | erniedrigt |
Parameter | Interpretation |
---|---|
Serum-Phosphoethanolamin | erhöht |
Urinausscheidung von Phosphoethanolamin | erhöht |
Zur Therapie steht das Strensiq® (asfotase alfa) zur Verfügung.
1. |
Whyte MP et al. (1982) Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. |
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3. |
None (1957) Hypophosphatasia. |
4. |
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5. |
None () Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case. |
6. |
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7. |
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8. |
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9. |
Eastman JR et al. (1983) Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. |
10. |
Albeggiani A et al. (1982) Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years. |
11. |
Wolff C et al. (1982) Hypophosphatasia congenita letalis. |
12. |
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. |
13. |
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14. |
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15. |
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16. |
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17. |
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18. |
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19. |
None (1948) Hypophosphatasia; a new developmental anomaly. |
20. |
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21. |
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22. |
Pauli RM et al. (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. |
23. |
Macfarlane JD et al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships. |
24. |
Moore CA et al. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. |
25. |
Hu JC et al. (2000) Characterization of a family with dominant hypophosphatasia. |
26. |
Lia-Baldini AS et al. (2001) A molecular approach to dominance in hypophosphatasia. |
27. |
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. |
28. |
Whyte MP et al. (2007) Adult hypophosphatasia treated with teriparatide. |
29. |
Greenberg CR et al. (1993) A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. |
30. |
Litmanovitz et al. (2002) Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. |
31. |
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32. |
Whyte MP et al. (1979) Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. |
33. |
Whyte MP et al. (1978) Adult hypophosphatasia dominant inheritance in a large kindred. |
34. |
Whyte MP et al. (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. |
35. |
Danovitch SH et al. (1968) Intestinal alkaline phosphatase activity in familial hypophosphatasia. |
36. |
Jardon OM et al. (1970) Hypophosphatasia in an adult. |
37. |
Eade AW et al. (1981) Pyrophosphate arthropathy in hypophosphatasia. |
38. |
Fallon MD et al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. |
39. |
Whyte MP et al. (1982) Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. |
40. |
Whyte MP et al. (1982) Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. |
41. |
Weinstein RS et al. (1981) Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. |
42. |
Morava E et al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. |
43. |
OMIM.ORG article Omim 146300 |
44. |
Orphanet article Orphanet ID 436 |
45. |
Wikipedia Artikel Wikipedia DE (Hypophosphatasie) |