Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature

IntroductionFamilial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder caused by an inactivating mutation in the CASR gene, while Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder resulting from a pathogenic mutation in the SLC12A3 gene. Both genetic disorders...

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Bibliographic Details
Main Authors:	Taoyuan He, Xinyu Li, Guosheng Li, Wanyang Wang, Hongjun Fu, Zhengnan Gao, Xuhan Liu
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-02-01
Series:	Frontiers in Endocrinology
Subjects:	familial hypocalciuric hypercalcemia familial hypocalciuric hypercalcemia type 1 Gitelman syndrome chondrocalcinosis diabetes mellitus
Online Access:	https://www.frontiersin.org/articles/10.3389/fendo.2025.1503128/full
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Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature

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