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Jordan's Rare Mutation Links to Kidney Stones
Dr. Hossam Abu Farsakh revealed a rare medical case involving a young woman who exhibited complex symptoms after taking vitamin D and calcium supplements to treat deficiencies. Her blood calcium levels rose to 16 mg/dL, she experienced recurrent kidney stones, and her kidney function declined, leading to bone problems and fractures. It was determined that her condition resulted from a rare genetic mutation in the CYP24A1 gene, which is responsible for breaking down vitamin D and regulating its levels. This mutation caused calcium to accumulate in her body. The diagnosis required a change in treatment approach, including avoiding vitamin D supplements and reducing exposure to ultraviolet rays, while closely monitoring her calcium levels and kidney function. The doctor emphasized the importance of consulting a healthcare professional before taking supplements to prevent rare but serious health complications.
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