Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyperphosphatämische familiäre Tumorcalcinose

Die Hyperphosphatämische familiäre Tumorkalzinose ist eine autosomal rezessive Erkrankung die zu einer Hyperphosphatämie und konsekutiv Verkalkungen der Weichteilgewebe führt.

Symptome

Calcinose
Die Calcinosis tumoralis ist als Folge der anhaltenden Hyperphosphatämie zu verstehen.
Hyperphosphatämie
Die Hyperphosphatämie ist die Folge der Fehlsteuerung und damit vermehrten renalen Reabsorption von Phosphat.

Gliederung

Störungen des Phosphathaushaltes
Hyperphosphatämische familiäre Tumorcalcinose
FGF23
GALNT3
KL
Hypophosphatasie
Hypophosphatämische Knochen- und Nierenerkrankung

Referenzen:

1.

Steinherz R et. al. (1985) Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis.

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2.

Lyles KW et. al. (1985) Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity.

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3.

Slavin RE et. al. (1993) Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis.

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4.

MCPHAUL JJ et. al. (1961) Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina.

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5.

Topaz O et. al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

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6.

Frishberg Y et. al. (2005) Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

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7.

Ichikawa S et. al. (2005) A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

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8.

Specktor P et. al. (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.

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9.

Ichikawa S et. al. (2006) Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene.

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10.

Ichikawa S et. al. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

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11.

Ichikawa S et. al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

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12.

Abbud Y et. al. (1979) Scintiscans of two siblings with tumoral calcinosis.

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13.

Pursley TV et. al. (1979) Cutaneous manifestations of tumoral calcinosis.

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14.

None (1978) Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey.

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15.

Wilson MP et. al. (1989) Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis.

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16.

Witcher SL et. al. (1989) Tumoral calcinosis with unusual dental radiographic findings.

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17.

Gregosiewicz A et. al. (1989) Tumoral calcinosis: successful medical treatment. A case report.

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18.

Talab YA et. al. () Hyperostosis with hyperphosphatemia: a case report and review of the literature.

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19.

Davies M et. al. (1987) Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation.

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20.

Mozaffarian G et. al. (1972) Treatment of tumoral calcinosis with phosphorus deprivation.

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21.

Altman HS et. al. (1971) Cortical hyperostosis with hyperphosphatemia.

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22.

James AE et. al. (1969) Roentgen findings in pseudoxanthoma elasticum (PXE).

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23.

Melhem RE et. al. (1970) Cortical hyperostosis with hyperphosphatemia: a new syndrome?

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24.

Najjar SS et. al. (1968) Tumoral calcinosis and pseudoxanthoma elasticum.

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25.

McClatchie S et. al. (1969) Tumoral calcinosis--an unrecognized disease.

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26.

None () [A familial form of lipocalcigranulomatosis with arterial calcinosis].

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27.

None (1966) Tumoural calcinosis.

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28.

None (1966) Calcifying collagenolysis (tumoural calcinosis).

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29.

Harkess JW et. al. (1967) Tumoral calcinosis. A report of six cases.

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30.

Mitnick PD et. al. (1980) Calcium and phosphate metabolism in tumoral calcinosis.

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31.

Mikati MA et. al. (1981) The syndrome of hyperostosis and hyperphosphatemia.

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32.

Clarke E et. al. (1984) Tumoral calcinosis, diaphysitis, and hyperphosphatemia.

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33.

Zerwekh JE et. al. (1980) Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1 alpha,25-dihydroxycholecalciferol synthesis.

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34.

Prince MJ et. al. (1982) Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations.

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35.

Chausmer A et. al. (1982) Phosphate depletion therapy in two ectopic calcification syndromes.

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36.

Balachandran S et. al. (1980) Tumoral calcinosis: scintigraphic studies of an affected family.

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37.

None (1997) Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis.

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38.

Adams WM et. al. (1999) Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation.

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39.

BARTON DL et. al. (1961) Tumoral calcinosis. Report of three cases and review of the literature.

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40.

ALTMAN HS et. al. (1961) Chronic polyostotic periostitis of unknown etiology.

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41.

Benet-Pagès A et. al. (2005) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

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42.

Chefetz I et. al. (2005) A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.

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43.

Goldbloom RB et. al. (1966) Idiopathic periosteal hyperostosis with dysproteinemia. A new clinical entity.

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