[Vitamin-resistant rachitism related to the X chromosome in adults. A report on three cases, one of whom had associated articular chondrocalcinosis (author's transl)].
Three cases of X-linked vitamin-resistant rachitism and discovered in adult life are reported. In all 3 cases there were morphological anomalies affecting mainly the limbs which were incurved and reduced stature. In two of the patients the disorder was progressive and presented as pain, walking difficulties, and Looser-Milkman striae. In the third case the hypophosphatemia was asympomatic, but it enabled the early diagnosis of a progressive rachitic disorder in the patient's child; treatment with 1-25 dihydroxycholecalciferol alone caused renewed growth, disappearance of radiological anomalies, and regression of biological disorders. Articular chondrocalcinosis was also present in one of the patients. This could be a coincidence and systematic search for this condition in cases of vitamin-resistant rachitism will be necessary to establish a possible relationship between the two affections.
D000328:Adult; D000368:Aged; D002358:Cartilage, Articular / Q000473:pathology; D002675:Child, Preschool; D002805:Chondrocalcinosis / Q000150:complications*; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010710:Phosphates / Q000097:blood; D012730:Sex Chromosomes; D014960:X Chromosome
D010710:Phosphates
Rachitisme vitamino-résistant lié au chromosome X: 3 cas découverts à l'âge adulte; association à la chondrocalcinose articulaire.