Unter hypophosphatämischer Rachitis werden all jene Störungen des Posphatstoffwechsels zusammengefasst, die mit einer erhöhten Phosphatauscheidung einhergehen und zu einem Verlust der Hartsubstanz der Knochen führt. Der all diesen Störungen gemeinsae Wirkmechanismus ist die erhöhte Sekretion des phosphaturischen Hormons FGF23 (Phosphotonin).
Von der Hypophosphatämischen Rachitis unterscheiden wir dominante und rezessive Formen, die weiter nach den zugrundeliegenden genen unterteilt werden können.
1. |
Seikaly MG et al. (1997) The effect of recombinant human growth hormone in children with X-linked hypophosphatemia. |
2. |
Short EM et al. (1973) Familial hypophosphatemic rickets: defective transport of inorganic phosphate by intestinal mucosa. |
3. |
Condon JR et al. (1971) Pathogenesis of rickets and osteomalacia in familial hypophosphataemia. |
4. |
Condon JR et al. (1970) Defective intestinal phosphate absorption in familial and non-familial hypophosphataemia. |
5. |
Highman JH et al. (1970) Vitamin-D-resistant osteomalacia as a cause of cord compression. |
6. |
None (1969) Familial hypophosphatemic vitamin D resistant rickets. The neonatal period and infancy. |
7. |
Rasmussen H et al. (1981) Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1 alpha-hydroxyvitamin D3. |
8. |
Chesney RW et al. (1983) Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets. |
9. |
Davies M et al. (1984) Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia. |
10. |
Cole DE et al. (1984) The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse. |
11. |
None (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. |
12. |
Carpenter TO et al. (1994) Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia. |
14. |
Nehgme R et al. (1997) Cardiovascular abnormalities in patients with X-linked hypophosphatemia. |
15. |
Moser CR et al. (1974) Rheumatic manifestations of hypophosphatemia. |
17. |
Sabbagh Y et al. (2000) PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia. |
18. |
Quarles LD et al. (2001) Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem. |
19. |
Mäkitie O et al. (2003) Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. |
20. |
BLACKARD WG et al. (1962) Familial hypophosphatemia. Report of a case, with observations regarding pathogenesis. |
21. |
BURNETT CH et al. (1964) VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES. |
22. |
Savio RM et al. (2004) Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets. |
23. |
Cho HY et al. (2005) A clinical and molecular genetic study of hypophosphatemic rickets in children. |
24. |
Makras P et al. (2008) Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene. |
25. |
Gaucher C et al. (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. |
26. |
Levine BS et al. (2009) The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. |
27. |
Liu ES et al. (2011) Calcitonin administration in X-linked hypophosphatemia. |
28. |
Stickler GB et al. (1989) Hypophosphataemic rickets: final height and clinical symptoms in adults. |
29. |
Rowe PS et al. (1992) Three DNA markers for hypophosphataemic rickets. |
30. |
Econs MJ et al. (1997) Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. |
31. |
None (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. |
32. |
None (1969) Current concepts. Vitamin D. |
33. |
Pak CY et al. (1972) Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol. |
34. |
Brickman AS et al. (1973) Actions of 1,25-dihydroxycholecalciferol in patients with hypophosphatemic, vitamin-D-resistant rickets. |
35. |
Harrison HE et al. (1966) Growth disturbance in hereditary hypophosphatemia. |
36. |
Holm IA et al. (1997) Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. |
37. |
Econs MJ et al. (1997) Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. |
38. |
WINTERS RW et al. (1958) A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. |
39. |
WILSON DR et al. (1965) STUDIES IN HYPOPHOSPHATEMIC VITAMIN D-REFRACTORY OSTEOMALACIA IN ADULTS. |
40. |
Econs MJ et al. (1990) The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. |
41. |
Hardy DC et al. (1989) X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. |
42. |
Thakker RV et al. (1987) Bridging markers defining the map position of X linked hypophosphataemic rickets. |
43. |
Firth RG et al. (1985) Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia. Report of two cases. |
44. |
Read AP et al. (1986) Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. |
45. |
Mächler M et al. (1986) X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. |
46. |
Adams JE et al. (1986) Intra-spinal new bone formation and spinal cord compression in familial hypophosphataemic vitamin D resistant osteomalacia. |
47. |
Harrell RM et al. (1985) Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol. |
48. |
Polisson RP et al. (1985) Calcification of entheses associated with X-linked hypophosphatemic osteomalacia. |
49. |
O'Malley S et al. () Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia. |
50. |
Earp HS et al. (1970) Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin-D-resistant rickets. |
51. |
Glorieux F et al. (1972) Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia. |
52. |
Glorieux FH et al. (1972) Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. |
53. |
Cohanim M et al. (1972) Effects of prolonged treatment with 25-hydroxycholecalciferol in hypophosphatemic (vitamin D refractory) rickets and osteomalacia. |
54. |
OMIM.ORG article Omim 241520 |