Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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

Hyperoxalurie
Hyperoxalurie vom Typ 1
AGXT
Hyperoxalurie vom Typ 2
Hyperoxalurie vom Typ 3

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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2.

Pirulli D et al. (1999) Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.

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3.

Walden U et al. (1999) Primary hyperoxaluria 1: catch up growth and normalization of oxaluria 6 years after hepatorenal transplantation in a prepubertal boy.

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4.

Cochat P et al. (1999) Primary hyperoxaluria in infants: medical, ethical, and economic issues.

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5.

Theodossiadis PG et al. (2002) Choroidal neovascularization in primary hyperoxaluria.

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6.

FREDERICK EW et al. (1963) STUDIES ON PRIMARY HYPEROXALURIA. I. IN VIVO DEMONSTRATION OF A DEFECT IN GLYOXYLATE METABOLISM.

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7.

Williams EL et al. (2009) Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.

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8.

Purdue PE et al. (1991) Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.

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9.

Nishiyama K et al. (1991) Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.

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10.

Latta K et al. (1990) Primary hyperoxaluria type I.

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11.

Small KW et al. (1990) Ocular findings in primary hyperoxaluria.

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12.

Takada Y et al. (1990) Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.

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13.

McDonald JC et al. (1989) Reversal by liver transplantation of the complications of primary hyperoxaluria as well as the metabolic defect.

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14.

Danpure CJ et al. (1987) Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity.

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15.

Danpure CJ et al. (1988) Prenatal exclusion of primary hyperoxaluria type 1.

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16.

Danpure CJ et al. (1989) An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.

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17.

Danpure CJ et al. (1986) Mitochondrial damage and the subcellular distribution of 2-oxoglutarate:glyoxylate carboligase in normal human and rat liver and in the liver of a patient with primary hyperoxaluria type I.

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18.

Danpure CJ et al. (1988) Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.

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19.

Baethge BA et al. (1988) Livedo reticularis and peripheral gangrene associated with primary hyperoxaluria.

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20.

Danpure CJ et al. (1986) Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.

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21.

Watts RW et al. (1985) Primary hyperoxaluria (type I): attempted treatment by combined hepatic and renal transplantation.

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22.

Yendt ER et al. (1985) Response to a physiologic dose of pyridoxine in type I primary hyperoxaluria.

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23.

Will EJ et al. (1979) Primary oxalosis: clinical and biochemical response to high-dose pyridoxine therapy.

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24.

Boquist L et al. (1973) Primary oxalosis.

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25.

Klauwers J et al. (1969) Failure of renal transplantation in primary oxalosis.

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26.

Bourke E et al. (1972) Primary hyperoxaluria with normal alpha-ketoglutarate: glyoxylate carboligase activity. Treatment with isocarboxazid.

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27.

Koch J et al. (1967) Deficiency of 2-oxo-glutarate: glyoxylate carboligase activity in primary hyperoxaluria.

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28.

Dent CE et al. (1970) Treatment of primary hyperoxaluria.

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29.

Lindenmayer JP et al. (1970) [Heredity of familial oxalosis].

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30.

Coltart DJ et al. (1971) Primary oxalosis of the heart: a cause of heart block.

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31.

Williams HE et al. (1968) L-glyceric aciduria. A new genetic variant of primary hyperoxaluria.

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32.

Hockaday TD et al. (1965) The metabolic error in primary hyperoxaluria.

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33.

Massie BM et al. (1981) Primary oxalosis with pan-conduction cardiac disease: electrophysiologic and anatomic correlation.

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34.

Berger A et al. (1984) More on neuropathy from pyridoxine abuse.

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35.

Dennis AJ et al. (1980) Nitroglycerin as a remedy for peripheral vascular insufficiency associated with oxalosis.

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36.

Chesney RW et al. (1983) Renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure.

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37.

O'Regan PF et al. (1980) Primary hyperoxaluria.

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38.

Morris MC et al. (1982) Oxalosis in infancy.

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39.

Milliner DS et al. (1994) Results of long-term treatment with orthophosphate and pyridoxine in patients with primary hyperoxaluria.

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40.

Danpure CJ et al. (1993) Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.

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41.

Danpure CJ et al. (1996) Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.

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42.

Gruessner RW et al. (1998) Preemptive liver transplantation from a living related donor for primary hyperoxaluria type I.

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43.

Miyata N et al. (2014) Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.

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