Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 72-year-old gentleman who presented to the outpatient clinic for a preventive health appointment with symptoms of depression and fatigue was found to have persistent hypercalcemia on routine laboratory monitoring. Initial laboratory testing was consistent with primary hyperparathyroidism with elevation in parathyroid hormone and low vitamin D levels. Further imaging demonstrated an ectopic mediastinal parathyroid adenoma. The ectopic lesion was treated surgically and lead to normalization of calcium levels and objective improvement in depressive symptoms. Primary hyperparathyroidism, which can be secondary to an adenoma, multigland hyperplasia, or neoplasm, can lead to the development of bone pain, fractures, and nephrolithiasis among other symptoms. The evaluation of hypercalcemia and the identification of primary hyperparathyroidism are important for the primary care physician to recognize so as to reduce disease morbidity as well as identify patients in need of further specialty care.
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PMID:Hypercalcemia in the Presence of an Ectopic Mediastinal Mass. 3255 12

A 53-year-old woman presented with bone pain and was diagnosed with osteomalacia because of hypophosphatemia, hyperphosphatasemia, bone pain, and radiographic findings. Because her intact-fibroblast growth factor 23 (FGF23) levels were high and contrast-enhanced computed tomography revealed a mass in the anterior ethmoid sinus, FGF23-related osteomalacia was diagnosed. The tumor was resected, but she developed hypercalcemia and elevated blood parathyroid hormone (PTH) levels. Primary hyperparathyroidism (PHPT) was diagnosed, and surgical resection was performed. To our knowledge, this is the first case of a FGF23-producing tumor complicated by PHPT. Because PHPT manifested after resecting the FGF23-producing tumor, FGF23 is thus considered to suppress PTH secretion in humans.
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PMID:Hyperparathyroidism Which Developed after Resection of a Fibroblast Growth Factor 23-producing Tumor. 3264 63


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