[A sporadic case of vitamin D-resistant rickets in an adult].
A case of probably sporadic vitamin D-resistant rickets is reported. The patient had suffered from rickets of average intensity in childhood, and the signs had persisted into his adult life. Serious symptoms due to phosphate depletion and marked osteomalacia, however, did not appear until he was 56. A brief description of the differential diagnosis and a summary of the literature on this uncommon form are followed by an account of the gradual biochemical and clinical improvement observed after treatment with phosphates and vitamin D.
D000469:Alkaline Phosphatase / Q000097:blood; D002118:Calcium / Q000097:blood; D002130:Calcium Phosphates / Q000627:therapeutic use; D003404:Creatinine / Q000097:blood; D003937:Diagnosis, Differential; D004576:Electromyography; D005198:Fanconi Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy*; D007719:Knee Joint / Q000000981:diagnostic imaging; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000175:diagnosis; D010018:Osteomalacia / Q000209:etiology; D010281:Parathyroid Hormone / Q000097:blood; D010710:Phosphates / Q000097:blood; D011859:Radiography; D014807:Vitamin D / Q000627:therapeutic use
D002130:Calcium Phosphates; D010281:Parathyroid Hormone; D010710:Phosphates; D014807:Vitamin D; D003404:Creatinine; D000469:Alkaline Phosphatase; D002118:Calcium
Un caso sporadico di rachitismo resistente alla vitamina D nell'adulto.