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

Taoyuan He, Xinyu Li, Guosheng Li, Wanyang Wang, Hongjun Fu, Zhengnan Gao, Xuhan Liu

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Review in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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7 authors.

Taoyuan He *Department of Endocrinology, Central Hospital of Dalian University of Technology, Dalian, China.

Xinyu Li *Department of Endocrinology, Central Hospital of Dalian University of Technology, Dalian, China.

Guosheng Li *Laboratory Pathology Department, Ningbo Clinical Pathology Diagnosis Center, Ningbo, China.

Wanyang WangTianjin Medical Laboratory, Beijing Genomics Institute (BGI)-Tianjin, BGI-Shenzhen, Tianjin, China.

Hongjun FuDepartment of Endocrinology, Central Hospital of Dalian University of Technology, Dalian, China.

Zhengnan GaoDepartment of Endocrinology, Central Hospital of Dalian University of Technology, Dalian, China.

Xuhan LiuDepartment of Endocrinology, Central Hospital of Dalian University of Technology, Dalian, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder caused by an inactivating mutation in the Case summary: We report a case of a 69-year-old Asian female patient who had previously presented to the hospital on multiple occasions with complaints of joint stiffness, fatigue, dizziness, or other symptoms. The patient was readmitted to the hospital at the age of 66, presenting with the following clinical findings: hypocalciuria, hypercalcemia, normal or mildly elevated parathyroid hormone (PTH) levels, hypokalemia, hypomagnesemia, hypophosphatemia, normal blood pressure, chondrocalcinosis (CC), and diabetes mellitus. Our careful analysis suggested that the patient might have the co-occurrence of GS and FHH. Genetic testing revealed a novel heterozygous Conclusion: For the first time, we report a case of FHH combined with GS. The novel

Indexed as

Gitelman SyndromeHypercalcemiaMutationReceptors, Calcium-SensingSolute Carrier Family 12, Member 3AgedFemaleHumansCASR protein, humanReceptors, Calcium-SensingSLC12A3 protein, humanSolute Carrier Family 12, Member 3chondrocalcinosisdiabetes mellitusfamilial hypocalciuric hypercalcemiafamilial hypocalciuric hypercalcemia type 1Gitelman syndrome

Identifiers

PMID40070587

DOI10.3389/fendo.2025.1503128

PMCPMC11893564

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