Expanding the phenotype of familial hypocalciuric hypercalcemia type 3: Case report and review of the literature

Expanding the phenotype of familial hypocalciuric hypercalcemia type 3: Case report and review of the literature

Background: Familial hypocalciuric hypercalcemia (FHH) is a rare condition that affects the calcium sensing receptor and its associated proteins, causing parathyroid hormone (PTH)-mediated hypercalcemia. FHH is inherited in an autosomal dominant pattern. Most persons with FHH are asymptomatic. Case...

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Bibliographic Details
Main Authors: Lior Baraf, Noa Shefer Averbuch, Lior Carmon, Auryan Szalat, Rivka Sukenik-Halevy, Merav Fraenkel
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Journal of Clinical and Translational Endocrinology Case Reports
Subjects:
FHH3
Pancreatitis
AP2S1
Hypercalcemia
Online Access:http://www.sciencedirect.com/science/article/pii/S2214624522000326

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http://www.sciencedirect.com/science/article/pii/S2214624522000326

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