Congenital hyperphosphatasaemia. Case report of a patient observed between the ages of three and eleven years.
The authors investigated a case of congenital hyperphosphatasaemia. This disease is due to a change in the bone metabolism and produces severe skeletal deformities. Treatment with calcitonin relieved the pain but had no effect on either the evolution of the deformities or the laboratory findings.
D000469:Alkaline Phosphatase / Q000097:blood* / Q000378:metabolism; D001847:Bone Diseases / Q000151:congenital* / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging
D000469:Alkaline Phosphatase