ArticleBMJ case reports2014
Parathyroid adenoma in a patient with familial hypocalciuric hypercalcaemia.
Article in BMJ case reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Markedly elevated bone mineral density in genetically elusive familial hypocalciuric hypercalcemia: A case report with targeted genetic analysis of eight candidate genes.Bone reports · 2026Article
- Acquired hypocalciuric hypercalcemia in a dog.The Journal of veterinary medical science · 2025Article
- Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.Frontiers in endocrinology · 2023Article
- Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report.Journal of medical case reports · 2021Article
- Radiofrequency Ablation of Parathyroid Glands to Treat a Patient With Hypercalcemia Caused by a Novel Inactivating Mutation inFrontiers in endocrinology · 2021Article
- Double jeopardy: a patient's tale of two concurrent hypercalcaemic syndromes.BMJ case reports · 2020Article
- Case Report: Familial Hypocalciuric Hypercalcaemia and Hashimoto's Thyroiditis.Frontiers in surgery · 2020Article
- Familial hypocalciuric hypercalcemia and related disorders.Best practice & research. Clinical endocrinology & metabolism · 2018Review
- Diseases associated with calcium-sensing receptor.Orphanet journal of rare diseases · 2017Review
- Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3.Clinical case reports · 2016Article
- A NOVEL MUTATION IN CALCIUM-SENSING RECEPTOR PRESENTING AS FAMILIAL HYPOCALCIURIC HYPERCALCEMIA IN A YOUNG MAN.AACE clinical case reportsArticle
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Authors and funding
3 authors.
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Abstract
A 57-year-old man with symptoms of fatigue, joint pains and insomnia was found to have hypercalcaemia secondary to hyperparathyroidism with a corrected calcium of 2.61 mmol/L (2.2-2.6 mmol/L) and a serum parathyroid hormone (PTH) of 86 pg/mL (10-65 pg/mL). Preoperative workup demonstrated a parathyroid adenoma in the right upper position and he proceeded to surgery. Postoperatively, however, his symptoms remained unchanged and the corrected calcium remained elevated at 2.87 mmol/L with a PTH of 59 pg/mL. He had no family history of hypercalcaemia. Further investigations revealed low 24 h urinary calcium level and a low urine calcium to creatinine ratio. Genetic testing revealed a mutation in exon 4 of the calcium sensing receptor (CaSR) confirming a diagnosis of familial hypocalciuric hyercalcaemia (FHH). The case is an example of a rare phenomenon when a parathyroid adenoma develops in patients with FHH.
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