Genetic Defect inCYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia
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چکیده
منابع مشابه
Severe hypercalcemia following vitamin d supplementation in a patient with multiple sclerosis: a note of caution.
OBJECTIVE To describe a patient with multiple sclerosis (MS) who developed severe hypercalcemia, attributed to the additive effect of 5500 IU of cholecalciferol and 2020 mg of calcium daily. DESIGN Case report. SETTING University hospital. PATIENT A 58-year-old woman with MS and osteoporosis presenting with acute-onset tremors and confusion. MAIN OUTCOME MEASURES Serum calcium and 25-hy...
متن کاملRelative expression of 1,25-dihydroxyvitamin D3 receptor, vitamin D 1 alpha-hydroxylase, vitamin D 24-hydroxylase, and vitamin D 25-hydroxylase in endometriosis and gynecologic cancers.
The authors demonstrate expression of the vitamin D receptor (VDR) and its hydroxylases in the endometrium and ovaries of women with and without endometriosis and endometrial or ovarian cancer. Immunohistochemistry showed strong staining of the VDR in endometriosis and endometrial cancer, with the most intense staining in epithelial cells. The VDR mRNA was significantly increased in patients wi...
متن کاملDiscordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
BACKGROUND/AIMS Hypercalcemia can result in nephrocalcinosis/nephrolithiasis and may lead to renal failure. Idiopathic infantile hypercalcemia is caused by mutations of the CYP24A1 gene, which regulates vitamin D activity. Classically infants present with hypercalcemia. Recently, a number of individuals have been reported with late onset clinical manifestation or late diagnosis in adulthood. Al...
متن کاملThe relation between infantile hypercalcemia and vitamin D--public health implications in North America.
This report was written by Dr. Donald Fraser of the Department of Paediatrics, Universit!/ of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada, in consultation with tile Conirnittee Ofl Nutrition of the American Academy of Pediatrics. The /)OSltiOhb taken on the issue examined reflects the current opinion of tile Committee and i)rovi(les tile .ccie iti/ic background for the ...
متن کاملThe Relation between Infantile Hypercalcemia and Vitamin D-public Health Implications in North America
This report was written by Dr. Donald Fraser of the Department of Paediatrics, Universit!/ of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada, in consultation with tile Conirnittee Ofl Nutrition of the American Academy of Pediatrics. The /)OSltiOhb taken on the issue examined reflects the current opinion of tile Committee and i)rovi(les tile .ccie iti/ic background for the ...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2012
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2011-1972