of the phosphate diabetes, also family one hypophosphatämische Rachitis, or Vitamin D resistant Rachitis or idiopathisches Debré de tonus Fanconi syndrome mentioned, are one X-chromosomal dominance left disturbance of the phosphate back absorption in the proximal Nierentubulus, which leads to a increased phosphate elimination across the urine.
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the Inzidenz of the illness amounts to 1:25.000. Girls are concerned thereby twice as often like boys, show however easier processes of the illness.
with phosphate diabetes is present a mutation for a gene on the short arm of the X-Chromosoms (Xp22.1). The exact mechanism of the emergence is still unsettled. It is accepted that the mutated gene for a protein codes diaphragm, which activates a hormone for the regularization of the renalen Phosphatauscheidung.
Apart from the disturbance of the phosphate back absorption also the Calcitriolsekretion is concerned. Despite degraded phosphate mirrors in the serum the Calcitriolsekretion does not rise.
usually less stature, disturbed tooth development manifests itself symptoms the illness in the second Lebensjahr in the form of skeleton deformations with strong Genova and Coxa vara (O-Beine) , breitbeinigem Watschelgang , as well as if no treatment takes place, interior ear [
are schwerhörigkeit the clinical picture, the Manifestationsalter and the family anamnesis. In the blood a degraded phosphate mirror, a increased alkaline Phosphatase shows up with normal mirror for calcium, ready hormone and Calcitriol.
as therapy is recommended the gift of phosphorus tablets and Calcitriol. The therapy should be begun as early as possible, in order to avoid skeleton damage. Because of the danger of the development of a Nephrokalzinose, regular controls of the kidney should take place via ultrasonic.
with punctual treatment heavy Knochendeformitäten can be prevented. With late beginning of treatment orthopedic corrections can be necessary.
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