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A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory
Joint Authors
Carlsson, Elin Rebecka
Toft Nielsen, Mai-Britt
Høgh, Anne Mette
Veggerby Grønlund, Rikke
Fenger, Mogens
Ambye, Louise
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-02-13
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene are known to cause familial hypocalciuric hypercalcemia (FHH), usually a benign form of hypercalcemia without symptoms of a disrupted calcium homeostasis.
FHH can be mistaken for the more common primary hyperparathyroidism (PHPT), for which surgical treatment may be needed.
We describe a case of a 36-year-old woman with hypercalcemia and elevated PTH, initially suspected of having PHPT.
Sequencing of the CaSR-gene revealed a mutation in nucleotide 437, changing the amino acid in position 146 from Glycine to Aspartate.
The mutation was previously undescribed in the literature, but a very low calcium:creatinine clearance ratio supported the diagnosis FHH.
A few years later, the patient’s two daughters were tested and the association between mutation and hypercalcemia could be confirmed.
The patient was gastric bypass-operated and therefore, due to malabsorption and increased risk of fracture, was in need of adequate calcium supplementation.
The chronically elevated calcium levels challenged medical followup, as calcium sufficiency could not be monitored in a traditional manner.
Eventually the patient developed elevated alkaline phosphatase, a further increased PTH and a decreased DXA T-score indicating calcium deficiency and bone resorption.
As a supplement, all CaSR-mutations found at our hospital, 2005-2018.
American Psychological Association (APA)
Carlsson, Elin Rebecka& Toft Nielsen, Mai-Britt& Høgh, Anne Mette& Veggerby Grønlund, Rikke& Fenger, Mogens& Ambye, Louise. 2019. A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory. Case Reports in Endocrinology،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1135864
Modern Language Association (MLA)
Carlsson, Elin Rebecka…[et al.]. A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory. Case Reports in Endocrinology No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1135864
American Medical Association (AMA)
Carlsson, Elin Rebecka& Toft Nielsen, Mai-Britt& Høgh, Anne Mette& Veggerby Grønlund, Rikke& Fenger, Mogens& Ambye, Louise. A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory. Case Reports in Endocrinology. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1135864
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1135864