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

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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Detalhes bibliográficos
Main Authors: Taoyuan He, Xinyu Li, Guosheng Li, Wanyang Wang, Hongjun Fu, Zhengnan Gao, Xuhan Liu
Formato: Artigo
Idioma:English
Publicado em: Frontiers Media S.A. 2025-02-01
Colecção:Frontiers in Endocrinology
Assuntos:
familial hypocalciuric hypercalcemia
familial hypocalciuric hypercalcemia type 1
Gitelman syndrome
chondrocalcinosis
diabetes mellitus
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fendo.2025.1503128/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2025.1503128/full

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