A Case of Familial Hypocalciuric Hypercalcemia
DOI:
https://doi.org/10.3329/bjo.v29i1.68132Keywords:
Primary hyperparathyroidism, Familial hypocalciuric hypercalcemia, Parathyroid adenoma.Abstract
Background: Primary hyperparathyroidism (PHPT) is a common endocrine disorder that is the leading benign cause of hypercalcemia. It may occur due to autonomous hypersecretion of parathyroid hormone (PTH), independently of serum calcium levels. Familial hypocalciuric hypercalcemia (FHH) is a group of autosomal dominant rare genetic diseases only affecting the regulation of calcium metabolism. It is usually caused by one of many heterozygous missense mutations in the calcium-sensing receptor (CaSR) gene, which could up-regulate the set point of parathyroid cells. When the CaSR receptor is inactivated, PTH is not suppressed despite relatively high calcium, which makes FHH similar to PHPT. We present a unique case of concomitant FHH and suspected parathyroid adenoma.
Case summary: A 10-year-old girl with symptomatic severe hypercalcemia, high PTH, and genetically diagnosed as FHH was referred to the department of otolaryngologyhead and neck surgery due to surgical excision of suspected parathyroid adenoma. Her biochemical evaluation showed elevated serum calcium and PTH. The calcium– creatinine clearance ratio was >0.01 (0.16). Her parathyroid scintigraphy showed negative for parathyroid adenoma, but the ultrasonography of the neck revealed an enlarged right inferior parathyroid gland. She underwent surgical excision of both the right superior and inferior parathyroid glands. However, the patient’s serum calcium and parathyroid hormone increased in the postoperative period, and her symptoms remained unchanged.
Conclusion: The correct diagnosis of the underlying cause of hypercalcemia is essential to ensure the proper treatment. Patients with FHH should avoid operative treatment, and PHPT should be differentiated to determine whether surgery should include parathyroidectomy with the removal of suspected parathyroid adenoma.
Bangladesh J Otorhinolaryngol 2023; 29(1): 39-44
Downloads
23
50
Downloads
Published
How to Cite
Issue
Section
License
Manuscripts submitted for publication in the Bangladesh Journal of Otorhinolaryngology must not have been previously submitted or published. Accepted papers become the permanent property of the Bangladesh Journal of Otorhinolaryngology. By submitting a manuscript, the authors(s) agree that copyrights for their articles are automatically transferred to Bangladesh Journal of Otorhinolaryngology, if and when the articles are accepted for publication.
The use, in this journal, of registered trade names, trade marks, etc. without special acknowledgement does not imply that such names, as defined by the relevant protection laws, be regarded as unprotected, and, thus, free for general use.
Authors who publish with this journal agree to the following terms:
Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).
