[Scriver type autosomal hypophosphatemic rachitis: a family case].
A familial observation of hypophosphatemic rickets with unusual inheritance and evolution, different from that of X linked hypophosphatemia, is reported. The mode of inheritance was autosomal dominant, a father and his son being affected. Severe early signs of rickets and delayed growth were present in both cases. Plasma 1,25 dihydroxyvitamin D and PTH levels were normal. There was no hypercalciuria. Complete cure of rickets and catch-up growth were obtained with the only treatment of vitamin D (40,000 U/day) in the father and of 1 alpha hydroxyvitamin D (1 microgram/day) in the son. This observation is quite similar to the 'autosomal hypophosphatemic bone disease' described by Scriver et al. It illustrates the heterogeneity of familial hypophosphatemia which presently includes 4 different physiopathological entities.
David
L
L
Service de Pédiatrie, hôpital Edouard-Herriot, Lyon, France.
Pesso
J L
JL
Cochat
P
P
Plauchu
H
H
François
R
R
D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D007015:Hypophosphatemia, Familial / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D014807:Vitamin D / Q000627:therapeutic use; D014960:X Chromosome
D006887:Hydroxycholecalciferols; D014807:Vitamin D
Rachitisme hypophosphatémique autosomique type Scriver: une observation familiale.