Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism

Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism

Background. Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH) are common causes of hypercalcaemia. Patients are mostly asymptomatic in the case of FHH and often so in the case of PHPT. In addition, biochemical parameters show considerable overlap, making differential...

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Main Authors: Bryan K. Ward, Kirsten A. Loffell, John P. Walsh, Warwick D. Howe, Suzanne J. Brown, Scott G. Wilson
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Endocrinology
Online Access:http://dx.doi.org/10.1155/2024/6652801
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http://dx.doi.org/10.1155/2024/6652801

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