Phosphate diabetes

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.

frequency

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.

a cause

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.

pathogenesis

by the renalen loss of phosphate, sinks the calcium - phosphate product. Thus it comes to a disturbed Knochenmineralisation.

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 [

typical

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.

In Roentgen rachitische changes of the Metaphysen are to lower arms, later also from Knie-und jump joints, as well as indications of the Osteomalazie.

therapy

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.

prognosis

with punctual treatment heavy Knochendeformitäten can be prevented. With late beginning of treatment orthopedic corrections can be necessary.

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