CYP24A1 mutations and hypervitaminosis D

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Neurofibromatosis, pathological fracture and hypervitaminosis-D.

Pathologic fractures in children may be due to various causes. Rarely, it may be the presenting symptom of neurofibromatosis. A misdiagnosis of Rickets and Vitamin D supplementation in such a case may wreak havoc in the form of iatrogenic hypervitaminosis D. We report one such case.

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Adult Hypervitaminosis D-A Case Series

Prolonged hypervitaminosis D can result in calcium deposition in the soft tissues (especially the kidneys and heart), changes in the central nervous system & in severe cases, death. Patients and clinicians considering supplementation above currently recommended levels should be made aware of the possible toxicities of treatment with vitamin D, and baseline calcium and parathyroid hormone and vi...

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Hypervitaminosis D associated with drinking milk.

BACKGROUND Vitamin D has been added to milk in the United States since the 1930s to prevent rickets. We report the unusual occurrence of eight cases of vitamin D intoxication that appear to have been caused by excessive vitamin D fortification of dairy milk. METHODS Medical records were reviewed and a dietary questionnaire was sent to eight patients who had unexplained hypervitaminosis D. Vit...

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Effects of Hypervitaminosis a and D on Skeletal Metabolism.

The feeding of escessive amounts of vitamin D to animals causes pathological changes in the skeleton and calcification of soft tissues (l-4). Hypervitaminosis A causes bone fragility. Spontaneous fractures occur in growing rats, whereas in the adult rat only rarefaction develops (5-8). Although excesses of each vitamin cause specific pathological changes, the concomitant feeding of toxic amount...

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LC-MS/MS for Identifying Patients with CYP24A1 Mutations.

BACKGROUND Patients have been described with loss-of-function CYP24A1 (cytochrome P450, family 24, subfamily A, polypeptide 1) mutations that cause a high ratio of 25-hydroxyvitamin D to 24,25-dihydroxyvitamin D [25(OH)D/24,25(OH)2D], increased serum 1,25-dihydroxyvitamin D, and resulting hypercalcemia, hypercalciuria and nephrolithiasis. A 25(OH)D/24,25(OH)2D ratio that can identify patients w...

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ژورنال

عنوان ژورنال: Clinical Medicine

سال: 2019

ISSN: 1470-2118,1473-4893

DOI: 10.7861/clinmedicine.19-1-92a