PMID- 30895164
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 2090-6501 (Print)
IS  - 2090-651X (Electronic)
IS  - 2090-651X (Linking)
VI  - 2019
DP  - 2019
TI  - 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.
PG  - 9468252
LID - 10.1155/2019/9468252 [doi]
LID - 9468252
AB  - 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.
FAU - Carlsson, Elin Rebecka
AU  - Carlsson ER
AUID- ORCID: 0000-0002-8923-5943
AD  - Department of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, 
      Denmark.
FAU - Toft Nielsen, Mai-Britt
AU  - Toft Nielsen MB
AD  - Department of Endocrinology, Copenhagen University Hospital Hvidovre, Denmark.
FAU - Hogh, Anne Mette
AU  - Hogh AM
AD  - Department of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, 
      Denmark.
FAU - Veggerby Gronlund, Rikke
AU  - Veggerby Gronlund R
AD  - Gubra, Horsholm, Denmark.
FAU - Fenger, Mogens
AU  - Fenger M
AD  - Department of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, 
      Denmark.
FAU - Ambye, Louise
AU  - Ambye L
AD  - Department of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, 
      Denmark.
LA  - eng
PT  - Case Reports
DEP - 20190213
PL  - United States
TA  - Case Rep Endocrinol
JT  - Case reports in endocrinology
JID - 101576457
PMC - PMC6393866
EDAT- 2019/03/22 06:00
MHDA- 2019/03/22 06:01
PMCR- 2019/02/13
CRDT- 2019/03/22 06:00
PHST- 2018/12/19 00:00 [received]
PHST- 2019/02/05 00:00 [accepted]
PHST- 2019/03/22 06:00 [entrez]
PHST- 2019/03/22 06:00 [pubmed]
PHST- 2019/03/22 06:01 [medline]
PHST- 2019/02/13 00:00 [pmc-release]
AID - 10.1155/2019/9468252 [doi]
PST - epublish
SO  - Case Rep Endocrinol. 2019 Feb 13;2019:9468252. doi: 10.1155/2019/9468252. 
      eCollection 2019.