A Japanese Girl with Familial Hypocalciuric Hypercalcemia Discovered with Skin Nodules of Calcium Deposition: A Case Report
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概要
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A case of Familial hypocalciuric hypercalcemia (FHH) whose proband was a child and discovered with skin nodules of calcium eposition was reported. The proband was a 4-year and 8-month old Japanese girl in November 1996. A high serum thyroid-stimulating hormone (TSH) level was pointed out in a neonatal mass screening program. She was diagnosed as having congenital hypothyroidism due to an iodine transport defect, and thyroid hormone replacement therapy was started. At 1 year and 1 month old, skin nodules were noticed and diagnosed as metastatic calcinosis cutis on skin biopsy. Skin nodules in her mother were also pointed out. In view of the high serum calcium level, low urinary calcium excretion and normal serum parathyroid hormone (PTH) level, both of them were diagnosed as having FHH.
- 日本小児内分泌学会の論文
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