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    A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report.

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    Authors
    Elamin, Wael F
    de Buyl, Olivier
    Affiliation
    Bantry General Hospital, Bantry, Co, Cork, Ireland. wael@elamin.net.
    Issue Date
    2010
    
    Metadata
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    Citation
    A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report. 2010, 4:349 J Med Case Reports
    Journal
    Journal of medical case reports
    URI
    http://hdl.handle.net/10147/204629
    DOI
    10.1186/1752-1947-4-349
    PubMed ID
    21034470
    Additional Links
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987963/?tool=pubmed
    Abstract
    Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with familial hypocalciuric hypercalcemia in affected families.
    We describe an Irish family with hypercalcemia and hypocalciuria. The proband, an 80-year-old Irish woman, presented with hypercalcemia, relative hypocalciuria, and an elevated parathormone level. She also had chronic kidney disease stage 3 and vitamin D deficiency. Two of her sons were also found to be hypercalcemic and hypocalciuric. DNA sequencing identified a novel missense inactivating mutation in the calcium sensing-receptor gene of the proband and her two hypercalcemic sons.
    Familial hypocalciuric hypercalcemia due to a novel mutation in the calcium-sensing receptor gene was diagnosed in the proband and her two sons. Disorders of calcium metabolism can be multifarious in the elderly. We suggest that testing first degree relatives for calcium levels and DNA sequencing may have a role in the assessment of elderly patients with parathormone-related hypercalcemia.
    Item Type
    Article
    Language
    en
    ISSN
    1752-1947
    ae974a485f413a2113503eed53cd6c53
    10.1186/1752-1947-4-349
    Scopus Count
    Collections
    Bantry General Hospital Cork

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