[Hereditary pseudovitamin-D-deficiency rickets with alopecia as a consequence of extreme resistance of target organs to 1.25-(OH)2-cholecalciferol. Therapeutic progress in another disorder of vitamin-D-metabolism (author's transl)].
We report about a pair of Turkish siblings suffering from alopecia and severe rickets. In the elder sister we could show the causal role of extreme resistance of target organs to 1.25-(OH)2-cholecalciferol. The birth of a brother who developed the same symptoms together with two other similar cases in siblings recently published by other authors, made it possible to recognize the disorder as a typical syndrome-like entity, based on a hereditary defect. By successful administration of excessive (and so-far not previously published) doses of Vitamin-D3 a way for therapeutic progress in this new type of vitamin-D-dependent rickets is shown.
D000505:Alopecia / Q000209:etiology*; D002762:Cholecalciferol / Q000627:therapeutic use; D004351:Drug Resistance; D005260:Female; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D007223:Infant; D008297:Male; D012279:Rickets / Q000188:drug therapy* / Q000235:genetics
D006887:Hydroxycholecalciferols; D002762:Cholecalciferol
Familiäre Pseudovitamin-D-Mangelrachitis mit Alopezie als Folge von hochgradiger Endorganresistenz gegen 1,25-(OH)2-Cholecalciferol. Therapierbarkeit einer weiteren Vitamin-D3-Stoffwechselstörung.