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
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 hyperparathyroidi...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-01-01
|
| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2019/9468252 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832556215162372096 |
|---|---|
| author | Elin Rebecka Carlsson Mai-Britt Toft Nielsen Anne Mette Høgh Rikke Veggerby Grønlund Mogens Fenger Louise Ambye |
| author_facet | Elin Rebecka Carlsson Mai-Britt Toft Nielsen Anne Mette Høgh Rikke Veggerby Grønlund Mogens Fenger Louise Ambye |
| author_sort | Elin Rebecka Carlsson |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-bcd72fd434be4395a6975a65ed6ac27a |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-bcd72fd434be4395a6975a65ed6ac27a2025-02-03T05:46:01ZengWileyCase Reports in Endocrinology2090-65012090-651X2019-01-01201910.1155/2019/94682529468252A 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 LaboratoryElin Rebecka Carlsson0Mai-Britt Toft Nielsen1Anne Mette Høgh2Rikke Veggerby Grønlund3Mogens Fenger4Louise Ambye5Department of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, DenmarkDepartment of Endocrinology, Copenhagen University Hospital Hvidovre, DenmarkDepartment of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, DenmarkGubra, Hørsholm, DenmarkDepartment of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, DenmarkDepartment of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, DenmarkHeterozygous 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.http://dx.doi.org/10.1155/2019/9468252 |
| spellingShingle | Elin Rebecka Carlsson Mai-Britt Toft Nielsen Anne Mette Høgh Rikke Veggerby Grønlund Mogens Fenger Louise Ambye 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 |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | http://dx.doi.org/10.1155/2019/9468252 |
| work_keys_str_mv | AT elinrebeckacarlsson anovelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT maibritttoftnielsen anovelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT annemettehøgh anovelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT rikkeveggerbygrønlund anovelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT mogensfenger anovelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT louiseambye anovelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT elinrebeckacarlsson novelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT maibritttoftnielsen novelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT annemettehøgh novelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT rikkeveggerbygrønlund novelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT mogensfenger novelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory AT louiseambye novelmutationofthecalciumsensingreceptorgenecausingfamilialhypocalciurichypercalcemiacomplicatesmedicalfollowupafterrouxenygastricbypassacasereportandasummaryofmutationsfoundinthesamehospitallaboratory |