Summary
The results of the treatment of 12 patients with hypophosphataemic vitamin D-resistant rickets, 4 similar patients who were first diagnosed in adulthood, and 2 adult patients with hypophosphataemic vitamin D-resistant osteomalacia are presented.
Treatment with a high dosage of Vitamin D2 was begun between 1 1/2 and 7 years of age. The dose of Vitamin D2 required for the treatment of rickets varied widely depending on the severity of the process and the age of the patient. Four patients with leg deformities required osteotomy or other operations. In other patients deformities improved with medical treatment alone.
Dwarfism and severe deformity of the legs were characteristic features in rickets first diagnosed in adulthood. Radiographic features were Looser's zones, a coarse trabecular pattern, increased bone density and ligamentous calcification. These patients presented several difficult orthopaedic problems.
Two brothers with hypophosphataemic vitamin Dresistant osteomalacia presented with bone pains, muscle weakness, limitation of motion in the back and height loss. Treatment with oral phosphate supplements in addition to high doses of Vitamin D2 was dramatic, with complete disappearance of muscle weakness and bone pain.
Résumé
Présentation des résultats du traitement de 12 malades atteints de rachitisme vitamino-résistant hypophosphatémique, de 4 autres malades chez qui le diagnostic ne fut porté qu'à l'âge adulte, et de 2 malades atteints d'ostéomalacie vitamino-résistante hypophosphatémique de l'adolescent.
Le traitement par de hautes doses de vitamine D2 a été commencé entre 1 an et demi et 7 ans. La dose de vitamine D2 nécessaire au traitement du rachitisme varie considérablement selon la sévérité de l'affection et l'âge des malades. Quatre malades présentant des déformations des jambes ont eu besoin d'une ostéotomie ou d'un autre traitement chirurgical. Chez les autres malades, les déformations furent améliorées par le seul traitement médical.
Le nanisme et les déformations sévères des jambes sont caractéristiques du rachitisme vitamino-résistant découvert à l'âge adulte. Radiologiquement il est caractérisé par la présence de zones de Looser, d'une trabéculation lâche, d'une accentuation de la densité osseuse et de calcifications ligamentaires. Ces malades posaient de nombreux et difficiles problèmes orthopédiques.
Deux frères atteints d'ostéomalacie vitamino-résistante présentaient des douleurs osseuses, une faiblesse musculaire, une limitation de la mobilité du rachis et une diminution de taille. Le traitement par phosphate associé à de hautes doses de vitamine D2 fut spectaculaire, avec disparition complète de la faiblesse musculaire et des douleurs osseuses.
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Eguchi, M., Kaibara, N. Treatment of hypophosphataemic vitamin D-resistant rickets and adult presenting hypophosphataemic vitamin D-resistant osteomalacia. International Orthopaedics 3, 257–264 (1980). https://doi.org/10.1007/BF00266019
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DOI: https://doi.org/10.1007/BF00266019