Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
Adulte Hypophosphatasie
ALPL
Infantile Hypophosphatasie
Kindliche Hypophosphatasie
Odontohypophosphatasie

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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