Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

FGF23-induzierte hypophosphatämische Rachitis

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).

Einteilung

Von der Hypophosphatämischen Rachitis unterscheiden wir dominante und rezessive Formen, die weiter nach den zugrundeliegenden genen unterteilt werden können.

Einteilung der Hypophosphataemischen Rachitis

Gliederung

Hypophosphatämische Knochen- und Nierenerkrankung
FGF23-induzierte hypophosphatämische Rachitis
Autosomal dominante hypophosphatämische Rachitis
FGF23
Autosomal rezessive hypophosphatämische Rachitis Typ 1
DMP1
Autosomal rezessive hypophosphatämische Rachitis Typ 2
ENPP1
X-chromosomal dominante hypophosphatämische Rachitis
PHEX
Hypophosphatämische Rachitis mit Hyperparathyroidismus
Hypophosphatämische Rachitis vom Fanconi-Typ
Osteoglophone Dysplasie
Raine-Syndrome
Störungen der renalen Phosphattransporter

Referenzen:

1.

Rowe PS et. al. (1992) Three DNA markers for hypophosphataemic rickets.

[^]
2.

DeLuca HF et al. (1969) Current concepts. Vitamin D.

[^]
3.

Pak CY et. al. (1972) Treatment of vitamin D-resistant rickets with 25-hydroxycholecalciferol.

[^]
4.

Brickman AS et. al. (1973) Actions of 1,25-dihydroxycholecalciferol in patients with hypophosphatemic, vitamin-D-resistant rickets.

[^]
5.

Harrison HE et. al. (1966) Growth disturbance in hereditary hypophosphatemia.

[^]
6.

Econs MJ et al. (1997) Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder.

[^]
7.

Holm IA et. al. (1997) Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

[^]
8.

Econs MJ et. al. (1997) Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13.

[^]
9.

et al. (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.

[^]
10.

WINTERS RW et. al. (1958) A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.

[^]
11.

WILSON DR et. al. (1965) STUDIES IN HYPOPHOSPHATEMIC VITAMIN D-REFRACTORY OSTEOMALACIA IN ADULTS.

[^]
12.

Econs MJ et. al. (1990) The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.

[^]
13.

Hardy DC et. al. (1989) X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features.

[^]
14.

Stickler GB et. al. (1989) Hypophosphataemic rickets: final height and clinical symptoms in adults.

[^]
15.

Thakker RV et. al. (1987) Bridging markers defining the map position of X linked hypophosphataemic rickets.

[^]
16.

Firth RG et. al. (1985) Development of hypercalcemic hyperparathyroidism after long-term phosphate supplementation in hypophosphatemic osteomalacia. Report of two cases.

[^]
17.

Read AP et. al. (1986) Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis.

[^]
18.

Mächler M et. al. (1986) X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

[^]
19.

Adams JE et. al. (1986) Intra-spinal new bone formation and spinal cord compression in familial hypophosphataemic vitamin D resistant osteomalacia.

[^]
20.

Harrell RM et. al. (1985) Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol.

[^]
21.

Polisson RP et. al. (1985) Calcification of entheses associated with X-linked hypophosphatemic osteomalacia.

[^]
22.

O'Malley S et. al. () Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia.

[^]
23.

Earp HS et. al. (1970) Effects of 25-hydroxycholecalciferol in patients with familial hypophosphatemia and vitamin-D-resistant rickets.

[^]
24.

Glorieux F et. al. (1972) Loss of a parathyroid hormone-sensitive component of phosphate transport in X-linked hypophosphatemia.

[^]
25.

Glorieux FH et. al. (1972) Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia.

[^]
26.

Cohanim M et. al. (1972) Effects of prolonged treatment with 25-hydroxycholecalciferol in hypophosphatemic (vitamin D refractory) rickets and osteomalacia.

[^]
27.

Moser CR et. al. (1974) Rheumatic manifestations of hypophosphatemia.

[^]
28.

Short EM et. al. (1973) Familial hypophosphatemic rickets: defective transport of inorganic phosphate by intestinal mucosa.

[^]
29.

Condon JR et. al. (1971) Pathogenesis of rickets and osteomalacia in familial hypophosphataemia.

[^]
30.

Condon JR et. al. (1970) Defective intestinal phosphate absorption in familial and non-familial hypophosphataemia.

[^]
31.

Highman JH et. al. (1970) Vitamin-D-resistant osteomalacia as a cause of cord compression.

[^]
32.

None (1969) Familial hypophosphatemic vitamin D resistant rickets. The neonatal period and infancy.

[^]
33.

Rasmussen H et. al. (1981) Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1 alpha-hydroxyvitamin D3.

[^]
34.

Chesney RW et. al. (1983) Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets.

[^]
35.

Davies M et. al. (1984) Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia.

[^]
36.

Cole DE et. al. (1984) The effects of Mendelian mutation on renal sulfate and phosphate transport in man and mouse.

[^]
37.

None (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.

[^]
38.

Carpenter TO et. al. (1994) Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia.

[^]
39.

Carpenter TO et. al. (1996) 24,25 Dihydroxyvitamin D supplementation corrects hyperparathyroidism and improves skeletal abnormalities in X-linked hypophosphatemic rickets--a clinical research center study.

[^]
40.

Nehgme R et. al. (1997) Cardiovascular abnormalities in patients with X-linked hypophosphatemia.

[^]
41.

Seikaly MG et. al. (1997) The effect of recombinant human growth hormone in children with X-linked hypophosphatemia.

[^]
42.

Econs MJ et. al. (1998) A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

[^]
43.

Sabbagh Y et. al. (2000) PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.

[^]
44.

Quarles LD et. al. (2001) Pathophysiology of X-linked hypophosphatemia, tumor-induced osteomalacia, and autosomal dominant hypophosphatemia: a perPHEXing problem.

[^]
45.

Mäkitie O et. al. (2003) Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.

[^]
46.

BLACKARD WG et. al. (1962) Familial hypophosphatemia. Report of a case, with observations regarding pathogenesis.

[^]
47.

BURNETT CH et. al. (1964) VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

[^]
48.

Savio RM et. al. (2004) Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets.

[^]
49.

Cho HY et. al. (2005) A clinical and molecular genetic study of hypophosphatemic rickets in children.

[^]
50.

Makras P et. al. (2008) Normal growth and muscle dysfunction in X-linked hypophosphatemic rickets associated with a novel mutation in the PHEX gene.

[^]
51.

Gaucher C et. al. (2009) PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

[^]
52.

Levine BS et. al. (2009) The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport.

[^]
53.

Liu ES et. al. (2011) Calcitonin administration in X-linked hypophosphatemia.

[^]