Hyperoxalurie vom Typ 1
Die autosomal rezessive Erkrankung Oxalose 1 bedeutet Hyperoxalurie, Nephrolithiasis mit Oxalatsteinen und Nephrocalcinose aufgrund von Mutationen des AGXT-Gens.
Management
Neben der bisher einzigen Therapie der kombinierten Leber- und Nierentransplantation existiert die Möglichkeit mit Dequaliniumchlorid (DECA) den normalen Transport von AGT in den Peroxisomen wieder herzustellen.[1]
Gliederung
Referenzen:
1. |
Purdue PE et al. (1990) Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. [^] |
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3. |
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8. |
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9. |
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14. |
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15. |
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Danpure CJ et al. (1989) An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. [^] |
17. |
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35. |
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41. |
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42. |
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43. |
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