Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Odontohypophosphatasie

Odontohypophosphatasie ist die mildeste Form der Hypophosphatasie. Die Vererbung ist autosomal dominant und das veranwortliche Gen ist ALPL. Die Erkrankung zeigt sich durch eine verzögerte Frakturheilung und diffuse Knochenschmerzen.

Management

Eine intermittierende Behandlung mit rekombinantem PTH verbessert die klinische Symptomatik. Zudem steht das Strensiq® (asfotase alfa) zur Verfügung.

Gliederung

Hypophosphatasie
Adulte Hypophosphatasie
Infantile Hypophosphatasie
Kindliche Hypophosphatasie
Odontohypophosphatasie
ALPL

Referenzen:

1.

Macfarlane JD et. al. (1992) Phenotypically dissimilar hypophosphatasia in two sibships.

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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.

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3.

Moore CA et. al. (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families.

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4.

Hu JC et. al. (2000) Characterization of a family with dominant hypophosphatasia.

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5.

Lia-Baldini AS et. al. (2001) A molecular approach to dominance in hypophosphatasia.

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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.

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7.

Whyte MP et. al. (2007) Adult hypophosphatasia treated with teriparatide.

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8.

Whyte MP et. al. (1979) Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature.

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9.

Whyte MP et. al. (1978) Adult hypophosphatasia dominant inheritance in a large kindred.

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10.

Whyte MP et. al. (1985) Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism.

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11.

Danovitch SH et. al. (1968) Intestinal alkaline phosphatase activity in familial hypophosphatasia.

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12.

Jardon OM et. al. (1970) Hypophosphatasia in an adult.

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13.

Eade AW et. al. (1981) Pyrophosphate arthropathy in hypophosphatasia.

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14.

Fallon MD et. al. (1984) Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms.

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15.

Whyte MP et. al. (1982) Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred.

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16.

Whyte MP et. al. (1982) Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts.

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17.

Weinstein RS et. al. (1981) Heterogeneity of adult hypophosphatasia. Report of severe and mild cases.

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18.

Pauli RM et. al. (1999) Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken.

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19.

Morava E et. al. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.

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20.

Unger S et. al. (2002) Severe cleidocranial dysplasia can mimic hypophosphatasia.

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21.

None (1957) Hypophosphatasia.

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