Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Vitamin D-abhängige Rachitis Typ 2A

Die Vitamin D-abhängige Rachitis Typ 2A wird durch Mutationen im Vitamin-D-Rezeptor hervorgerufen. Die Patienten zeigen neben den typischen Vitamin D-mangelbedingten Knochenveränderungen trotz sehr hohem Serum Calcitriol (1,25-Hydroxy Vitamin D)oft auch eine Alopezie.

Gliederung

Hereditäre Rachitis
Hypophosphatasie
Hypophosphatämische Knochen- und Nierenerkrankung
Vitamin D-abhängige Rachitis Typ 2A
VDR
Vitamin D-abhängige Rachitis Typ 2B
Vitamin D-hydroxylasemangelbedingte Rachitis Typ 1A
Vitamin D-hydroxylasemangelbedingte Rachitis Typ 1B

Referenzen:

1.

Arita K et al. (2008) A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.

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2.

Brooks MH et al. (1978) Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D.

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3.

Rosen JF et al. (1979) Rickets with alopecia: an inborn error of vitamin D metabolism.

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4.

Marx SJ et al. (1978) A familial syndrome of decrease in sensitivity to 1,25-dihydroxyvitamin D.

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5.

Malloy PJ et al. (1989) Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II.

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6.

Barsony J et al. (1989) Selective expression of a normal action of the 1,25-dihydroxyvitamin D3 receptor in human skin fibroblasts with hereditary severe defects in multiple actions of that receptor.

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7.

Manandhar DS et al. (1989) Rickets with alopecia-remission following a course of 1-alpha-hydroxy vitamin D3 therapy.

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8.

Faraco JH et al. (1989) ApaI dimorphism at the human vitamin D receptor gene locus.

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9.

Baker AR et al. (1988) Cloning and expression of full-length cDNA encoding human vitamin D receptor.

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10.

Hughes MR et al. (1988) Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets.

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11.

Liberman UA et al. (1986) Receptor-positive hereditary resistance to 1,25-dihydroxyvitamin D: chromatography of hormone-receptor complexes on deoxyribonucleic acid-cellulose shows two classes of mutation.

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12.

Balsan S et al. (1986) Long-term nocturnal calcium infusions can cure rickets and promote normal mineralization in hereditary resistance to 1,25-dihydroxyvitamin D.

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13.

Takeda E et al. (1986) Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes.

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14.

Fraher LJ et al. (1986) Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia.

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15.

Marx SJ et al. (1986) Analysis of the relation between alopecia and resistance to 1,25-dihydroxyvitamin D.

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16.

Zerwekh JE et al. (1979) An unique form of osteomalacia associated with end organ refractoriness to 1,25-dihydroxyvitamin D and apparent defective synthesis of 25-hydroxyvitamin D.

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17.

Gamblin GT et al. (1985) Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.

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18.

Marx SJ et al. (1984) Hereditary resistance to 1,25-dihydroxyvitamin D.

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19.

Sockalosky JJ et al. (1980) Vitamin D--resistant rickets: end-organ unresponsiveness to 1,25(OH)2D3.

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20.

Tsuchiya Y et al. (1980) An unusual form of vitamin D-dependent rickets in a child: alopecia and marked end-organ hyposensitivity to biologically active vitamin D.

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21.

Eil C et al. (1981) A cellular defect in hereditary vitamin-D-dependent rickets type II: defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts.

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22.

Feldman D et al. (1982) Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3.

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23.

Liberman UA et al. (1983) Resistance to 1,25-dihydroxyvitamin D. Association with heterogeneous defects in cultured skin fibroblasts.

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24.

Griffin JE et al. (1983) Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3.

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25.

Pike JW et al. (1984) Vitamin D3--resistant fibroblasts have immunoassayable 1,25-dihydroxyvitamin D3 receptors.

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26.

Bell NH et al. (1980) Vitamin D-dependent rickets type II.

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27.

Marx SJ et al. (1980) Normal intrauterine development of the fetus of a woman receiving extraordinarily high doses of 1,25-dihydroxyvitamin D3.

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28.

Kudoh T et al. (1981) Vitamin D dependent rickets: decreased sensitivity to 1,25-dihydroxyvitamin D.

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29.

Kristjansson K et al. (1993) Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3.

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30.

Malloy PJ et al. (1997) Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

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31.

Gunnes M et al. (1997) Lack of relationship between vitamin D receptor genotype and forearm bone gain in healthy children, adolescents, and young adults.

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