Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Murk-Jansen metaphyseale Chondrodysplasie

Die Murk-Jansen metaphyseale Chondrodysplasie ist eine autosomal dominante Erkrankung, die durch aktivierende Mutationen im PTH1R-Gen hervorgerufen wird. Die Erkrankung ist durch Hypercalciämie, Hypophosphatämie und supprimiertem PTH und PTH-related Protein gekennzeichnet. Im Genesatz dazu finden sich in der Regel Calcitriol und alkalische Phosphatase erhöht. Die Skeletfehlbildungen resultieren insbesondere aus der generalisierten Osteopenie.

Gliederung

Pseudohyperparathyreoidismus
Murk-Jansen metaphyseale Chondrodysplasie
PTH1R

Referenzen:

1.

Schipani E et. al. (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.

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2.

Karaplis AC et. al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene.

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3.

Gordon SL et. al. (1976) Jansen's metaphyseal dysostosis.

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4.

Holthusen W et. al. (1975) The skull in metaphyseal chondrodysplasia type Jansen.

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5.

None (1969) Metaphyseal dysostosis of Jansen.

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6.

de Haas WH et. al. (1969) Metaphysial dysostosis. A late follow-up of the first reported case.

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7.

Charrow J et. al. (1984) The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult.

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8.

Kruse K et. al. (1993) Calcium metabolism in the Jansen type of metaphyseal dysplasia.

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9.

Schipani E et. al. (1997) Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia.

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10.

None (2002) Some chondrodysplasias with short limbs: molecular perspectives.

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