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    Severe symptomatic hypercalcemia in a patient with familial hypocalciuric hypercalcemia

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    Author
    Kurian, Roshini
    Keyword
    casr mutation
    cinacalcet
    corrected serum calcium
    familial hypocalciuric hypercalcemia
    urine calcium
    zolendronic acid
    Date
    2021
    
    Metadata
    Show full item record
    Publisher's URL
    https://www.cureus.com/articles/75919-severe-symptomatic-hypercalcemia-in-a-patient-with-familial-hypocalciuric-hypercalcemia
    Abstract
    One of the less common causes of hypercalcemia is familial hypocalciuric hypercalcemia (FHH). It is an autosomal-dominant genetic condition, which presents asymptomatically in most patients while some may have mild symptoms. The serum calcium levels are mildly elevated with mild elevation in parathyroid hormone, which rarely requires management with pharmacologic agents. We present an unusual case report of a 76-year-old woman, confirmed to have FHH type 1 mutation, presented with symptomatic hypercalcemia probably set off by metabolic stresses of her age and needing intensive treatment with intravenous bisphosphonates, calcitonin and cinacalcet.
    Citation
    Kurian, R., Madegowda Chandrashekar, G., Antony, M. A., Chandra, L., & Kant, R. (2021). Severe Symptomatic Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia. Cureus, 13(11), e20057. https://doi.org/10.7759/cureus.20057
    Type
    Article
    URI
    http://hdl.handle.net/20.500.12904/15122
    Collections
    Genetics
    Pathology
    Endocrinology

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