title: Hypoparathyroidism and liver disease--evidence for a vitamin D hydroxylation defect. A case report.
abstract: The case history of a 4 year old girl with primary hypoparathyroidism is reported. Treatment with oral 1 alpha-hydroxyvitamin D3 did not result in normal calcium and phosphate levels, whereas treatment with oral 1 alpha,25-dihydroxyvitamin D3 did. During the treatment period, the patient developed signs of severe liver disease and died in a picture of increased intracranial pressure. Post-mortem examination revealed a giant cell hepatitis and severe cirrhosis. The clinical course is consistent with a liver vitamin D3 hydroxylation defect.
mesh_terms: D002117:Calcitriol / Q000627:therapeutic use; D002675:Child, Preschool; D005260:Female; D006505:Hepatitis / Q000209:etiology* / Q000378:metabolism; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D006900:Hydroxylation; D007011:Hypoparathyroidism / Q000150:complications* / Q000188:drug therapy / Q000378:metabolism; D008103:Liver Cirrhosis / Q000209:etiology* / Q000378:metabolism; D014807:Vitamin D / Q000378:metabolism*
chemical_list: D006887:Hydroxycholecalciferols; D014807:Vitamin D; D002117:Calcitriol; C008088:alfacalcidol