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- W2804827832 abstract "Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α11, or adaptor-related protein complex 2, sigma 1 subunit. While hypercalcemia in other conditions causes significant morbidity and mortality, FHH generally follows a benign course. Failure to diagnose FHH can result in unwarranted treatment or surgery for the mistaken diagnosis of primary hyperparathyroidism (PHPT), given the significant overlap of biochemical features. Determinations of urinary calcium excretion greatly aid in distinguishing PHPT from FHH, but overlap still exists in certain cases. It is important that 24-h urine calcium and creatinine be included in the initial workup of hypercalcemia. FHH should be considered if low or even low normal urinary calcium levels are found in what is typically an asymptomatic hypercalcemic patient. The calcimimetic cinacalcet has been used to treat hypercalcemia in certain symptomatic causes of FHH." @default.
- W2804827832 created "2018-06-01" @default.
- W2804827832 creator A5014707324 @default.
- W2804827832 creator A5036032139 @default.
- W2804827832 date "2018-10-01" @default.
- W2804827832 modified "2023-10-11" @default.
- W2804827832 title "Familial hypocalciuric hypercalcemia and related disorders" @default.
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- W2804827832 doi "https://doi.org/10.1016/j.beem.2018.05.004" @default.
- W2804827832 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6767927" @default.
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