A Woman and Her Father with Calcium-Sensing Receptor Mutation and Autosomal Dominant Hypocalcemia

Bhisit Changcharoen, MD; Megan Motosue, MD; Lisa Wong, MD; Richard Arakaki, MD

AACE Clinical Case Reports (Jan 2016)

A Woman and Her Father with Calcium-Sensing Receptor Mutation and Autosomal Dominant Hypocalcemia

Bhisit Changcharoen, MD,
Megan Motosue, MD,
Lisa Wong, MD,
Richard Arakaki, MD

Affiliations

Bhisit Changcharoen, MD: From the Department of Medicine, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii.
Megan Motosue, MD: From the Department of Medicine, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii.
Lisa Wong, MD: From the Department of Medicine, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii.
Richard Arakaki, MD: From the Department of Medicine, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii.; Address correspondence to Dr. Richard Arakaki, 1356 Lusitana Street, 7th Floor, Honolulu, HI 96813.

Journal volume & issue: Vol. 2, no. 1
pp. e50 – e53

Abstract

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ABSTRACT: Objective: To discuss the case of a woman and her father with autosomal dominant hypocalcemia (ADH), a rare disorder caused by an activating mutation of the calcium-sensing receptor (CaSR).Methods: Previous ADH case reports were obtained by Medline search and from an updated CaSR database.Results: A 37-year-old female presented with intermittent leg cramps and hypocalcemia. Her father had been previously diagnosed with asymptomatic hypocalcemia at age 54. Genetic analysis in both individuals revealed identical missense mutations in nucleotide c.2489G>A that resulted in a glycine to aspartic acid change at codon 830 (G830D) in the CaSR.Conclusion: The same mutation of the CaSR gene was identified in a woman and her father. This warrants the need for genetic testing in adults with mild hypocalcemia and a family history of hypocalcemia.Abbreviations: ADH = autosomal dominant hypocalcemia CaSR = calcium-sensing receptor iPTH = intact parathyroid hormone OMIM = Online Mendelian Inheritance in Man TMD = transmembrane domain

Published in AACE Clinical Case Reports

ISSN: 2376-0605 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Website: https://www.journals.elsevier.com/aace-clinical-case-reports

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