Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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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22.

OMIM.ORG article

Omim 146300 [^]
23.

Orphanet article

Orphanet ID 247685 [^]
Update: 29. April 2019