Hyperphosphatämische familiäre Tumorcalcinose
Die Hyperphosphatämische familiäre Tumorkalzinose ist eine autosomal rezessive Erkrankung die zu einer Hyperphosphatämie und konsekutiv Verkalkungen der Weichteilgewebe führt.
| Calcinose | |
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Die Calcinosis tumoralis ist als Folge der anhaltenden Hyperphosphatämie zu verstehen. |
| Hyperphosphatämie | |
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Die Hyperphosphatämie ist die Folge der Fehlsteuerung und damit vermehrten renalen Reabsorption von Phosphat. |
Gliederung
Störungen des Phosphathaushaltes
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Hyperphosphatämische familiäre Tumorcalcinose
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FGF23
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GALNT3
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KL
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Hypophosphatasie
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Hypophosphatämische Knochen- und Nierenerkrankung
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Referenzen:
| 1. |
Steinherz R et. al. (1985) Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis. [^] |
| 2. |
Lyles KW et. al. (1985) Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. [^] |
| 3. |
Slavin RE et. al. (1993) Familial tumoral calcinosis. A clinical, histopathologic, and ultrastructural study with an analysis of its calcifying process and pathogenesis. [^] |
| 4. |
MCPHAUL JJ et. al. (1961) Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina. [^] |
| 5. |
Topaz O et. al. (2004) Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. [^] |
| 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. [^] |
| 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. [^] |
| 8. |
Specktor P et. al. (2006) Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. [^] |
| 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. [^] |
| 10. |
Ichikawa S et. al. (2010) Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. [^] |
| 11. |
Ichikawa S et. al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. [^] |
| 12. |
Abbud Y et. al. (1979) Scintiscans of two siblings with tumoral calcinosis. [^] |
| 13. |
Pursley TV et. al. (1979) Cutaneous manifestations of tumoral calcinosis. [^] |
| 14. |
None (1978) Tumoral calcinosis. A clinical and pathological study of eleven unreported cases in Turkey. [^] |
| 15. |
Wilson MP et. al. (1989) Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis. [^] |
| 16. |
Witcher SL et. al. (1989) Tumoral calcinosis with unusual dental radiographic findings. [^] |
| 17. |
Gregosiewicz A et. al. (1989) Tumoral calcinosis: successful medical treatment. A case report. [^] |
| 18. |
Talab YA et. al. () Hyperostosis with hyperphosphatemia: a case report and review of the literature. [^] |
| 19. |
Davies M et. al. (1987) Tumoral calcinosis: clinical and metabolic response to phosphorus deprivation. [^] |
| 20. |
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| 21. |
Altman HS et. al. (1971) Cortical hyperostosis with hyperphosphatemia. [^] |
| 22. |
James AE et. al. (1969) Roentgen findings in pseudoxanthoma elasticum (PXE). [^] |
| 23. |
Melhem RE et. al. (1970) Cortical hyperostosis with hyperphosphatemia: a new syndrome? [^] |
| 24. |
Najjar SS et. al. (1968) Tumoral calcinosis and pseudoxanthoma elasticum. [^] |
| 25. |
McClatchie S et. al. (1969) Tumoral calcinosis--an unrecognized disease. [^] |
| 26. |
None () [A familial form of lipocalcigranulomatosis with arterial calcinosis]. [^] |
| 27. |
None (1966) Tumoural calcinosis. [^] |
| 28. |
None (1966) Calcifying collagenolysis (tumoural calcinosis). [^] |
| 29. |
Harkess JW et. al. (1967) Tumoral calcinosis. A report of six cases. [^] |
| 30. |
Mitnick PD et. al. (1980) Calcium and phosphate metabolism in tumoral calcinosis. [^] |
| 31. |
Mikati MA et. al. (1981) The syndrome of hyperostosis and hyperphosphatemia. [^] |
| 32. |
Clarke E et. al. (1984) Tumoral calcinosis, diaphysitis, and hyperphosphatemia. [^] |
| 33. |
Zerwekh JE et. al. (1980) Tumoral calcinosis: evidence for concurrent defects in renal tubular phosphorus transport and in 1 alpha,25-dihydroxycholecalciferol synthesis. [^] |
| 34. |
Prince MJ et. al. (1982) Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations. [^] |
| 35. |
Chausmer A et. al. (1982) Phosphate depletion therapy in two ectopic calcification syndromes. [^] |
| 36. |
Balachandran S et. al. (1980) Tumoral calcinosis: scintigraphic studies of an affected family. [^] |
| 37. |
None (1997) Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis. [^] |
| 38. |
Adams WM et. al. (1999) Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. [^] |
| 39. |
BARTON DL et. al. (1961) Tumoral calcinosis. Report of three cases and review of the literature. [^] |
| 40. |
ALTMAN HS et. al. (1961) Chronic polyostotic periostitis of unknown etiology. [^] |
| 41. |
Benet-Pagès A et. al. (2005) An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. [^] |
| 42. |
Chefetz I et. al. (2005) A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification. [^] |
| 43. |
Goldbloom RB et. al. (1966) Idiopathic periosteal hyperostosis with dysproteinemia. A new clinical entity. [^] |
