[Transient vitamin-D dependent rickets? a case report differential diagnosis (author's transl)].
The clinical course of a 9-month-old boy with Vit. D resistant rickets receiving treatment course 1-Alpha-hydroxycholecalciferol is described. Patient's response to therapy was excellent, after regression of bone changes and normalization of serum parameters drug treatment was discontinued for differential diagnostic considerations. Even several months later no relapse occurred. Due to this fact and the high concentration of serum 1,25-dihydroxycholecalciferol concentration during therapy the very rare pseudovitamin-D-deficiency type II, which is characterized by a bone receptor defect, was assumed. In contrast, successful treatment with low-dose 1 Alpha-OHCCF indicates that the underlying defect is pseudovitamin-D-deficiency rickets type I, however this form would require lifelong therapy. The differential diagnosis based on recent knowledge of Vitamin-D-metabolism is discussed.
D002112:Calcifediol; D002762:Cholecalciferol / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004305:Dose-Response Relationship, Drug; D006801:Humans; D006887:Hydroxycholecalciferols / Q000097:blood / Q000627:therapeutic use; D007015:Hypophosphatemia, Familial / Q000097:blood / Q000175:diagnosis*; D007223:Infant; D008297:Male; D014808:Vitamin D Deficiency / Q000175:diagnosis*
D006887:Hydroxycholecalciferols; D002762:Cholecalciferol; D002112:Calcifediol; C008088:alfacalcidol
Passagere Pseudovitamin-D-Mangelrachitis? Differentialdiagnostik an Hand eines Falles.