Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu)

Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu)

Conclusion: Evocalcet may be a promising therapeutic candidate for symptomatic FHH3.

Saved in:

Bibliographic Details
Main Authors:	Ai Chida, Yutaka Hasegawa, Toshie Segawa, Daisuke Yamabe, Hirotaka Yan, Yusuke Chiba, Hiraku Chiba, Hirofumi Kinno, Tomoyasu Oda, Yoshihiko Takahashi, Koji Nata, Yasushi Ishigaki
Format:	Article
Language:	English
Published:	Wiley 2025-01-01
Series:	Case Reports in Endocrinology
Online Access:	http://dx.doi.org/10.1155/crie/9514578
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
by: Mohamed Aashiq, et al.
Published: (2020-01-01)

Singular case report of familial hypocalciuric hypercalcemia: a rare diagnosis of hypercalcemia in the older people
by: Etienne Ojardias, et al.
Published: (2025-12-01)

Case Reports of Patients Diagnosed with Familial Hypocalciuric Hypercalcemia, A Disorder That Should be Kept in Mind in Hypercalcemia Cases
by: Ayşe Derya Buluş, et al.
Published: (2022-09-01)

Hypocalciuric Hypercalcemia due to Impaired Renal Tubular Calcium Excretion in a Type 2 Diabetic Patient
by: Sihao Yang, et al.
Published: (2017-01-01)

A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH
by: Sachin K. Majumdar, et al.
Published: (2020-01-01)

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys
by: Amund Holte Berger, et al.
Published: (2025-04-01)

Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant
by: Shen-Yang Lim, et al.
Published: (2025-02-01)

The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature
by: S. A. Ghaznavi, et al.
Published: (2016-01-01)

Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
by: Friederike Cuello, et al.
Published: (2021-05-01)

Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant
by: Takuya Sumida, et al.
Published: (2024-12-01)

Structural and population-based evaluations of TBC1D1 p.Arg125Trp.
by: Tom G Richardson, et al.
Published: (2013-01-01)

Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature
by: Taoyuan He, et al.
Published: (2025-02-01)

Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene
by: A. N. Kucher, et al.
Published: (2022-10-01)

Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation
by: Osman Yeşilbaş, et al.
Published: (2017-10-01)

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
by: Melanie P. Napier, et al.
Published: (2025-04-01)

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
by: Shiroh Miura, et al.
Published: (2024-01-01)

Generation of XPA p.Arg228T mutant LUMCi004-A cell line for modeling Xeroderma pigmentosum group A
by: Halida P. Widyastuti, et al.
Published: (2024-12-01)

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases
by: Ruxuan Zhang, et al.
Published: (2025-05-01)

Prevalence and Clinical Characteristics of Heterozygous RNF213 p.Arg4810Lys Variant Carriers Diagnosed With Chronic Thromboembolic Pulmonary Hypertension
by: Takatoyo Kiko, et al.
Published: (2024-08-01)

Balloon Pulmonary Angioplasty in Heterozygous RNF213 p.Arg4810Lys Variant Carriers Diagnosed With Chronic Thromboembolic Pulmonary Hypertension
by: Takatoyo Kiko, et al.
Published: (2025-05-01)

Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature
by: Serkan Bilge Koca
Published: (2023-10-01)

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation
by: Erin Conboy, et al.
Published: (2017-01-01)

The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans
by: Minna Ampuja, et al.
Published: (2025-07-01)

Precision Medicine in Chronic Thromboembolic Pulmonary Hypertension: Unraveling the Genetic Impact of RNF213 p.Arg4810Lys on Balloon Pulmonary Angioplasty Outcomes
by: Shu‐Hao Wu, et al.
Published: (2025-05-01)

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report
by: Elke Smits, et al.
Published: (2025-08-01)

Hypomyelinating Leukodystrophy 14 (HLD14)-Related UFC1 p.Arg23Gln Decreases Cell Morphogenesis: A Phenotype Reversable with Hesperetin
by: Yuri Ichihara, et al.
Published: (2025-01-01)

<i>KIAA2022/NEXMIF</i> c.1882C>T (p.Arg628*) Variant in a Romanian Patient with Neurodevelopmental Disorders and Epilepsy: A Case Report and Systematic Review
by: Catalina Mihaela Anastasescu, et al.
Published: (2025-03-01)

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene
by: Christian Betz, et al.
Published: (2025-07-01)

Årg. 110 Nr. 3 (2023)
by: NTfK
Published: (2023-10-01)

Generation of an induced pluripotent stem cell (iPSC) line carrying a KCNA2 homozygous (p.Arg294His, R294H) mutation related to hereditary spastic paraplegia
by: Hang Lyu, et al.
Published: (2025-08-01)

Association of Toll-Like Cell Receptors TLR2 (p.Arg753GLN) and TLR4 (p.Asp299GLY) Polymorphisms with Indicators of General and Local Immunity in Patients with Atopic Dermatitis
by: Yury A. Tyurin, et al.
Published: (2017-01-01)

The Environment Shapes the Inner Vestibule of LeuT.
by: Azmat Sohail, et al.
Published: (2016-11-01)

Boubiers (Oise). Église Saint-Leu
by: Cyril Meunier
Published: (2021-12-01)

The lysosomotropic drug LeuLeu-OMe induces lysosome disruption and autophagy-independent cell death in Trypanosoma brucei
by: Hazel Xinyu Koh, et al.
Published: (2015-07-01)

THE HORIZON OF PREDICTION FOR EXCHANGE RATE EUR-LEU
by: DUMITRU CIOBANU
Published: (2012-01-01)

Cholangiocarcinoma Presenting with Hypercalcemia and Thrombocytopenia
by: Muharrem Battal, et al.
Published: (2014-01-01)

Hypercalcemia associated with hematologic malignancies
by: I. A. Kurmukov, et al.
Published: (2022-11-01)

Clinical insight into hypercalcemia in children
by: Huseyin Anıl Korkmaz
Published: (2025-08-01)

Prolonged Hypercalcemia-Induced Psychosis
by: Lauren Nagy, et al.
Published: (2020-01-01)

The effect of L-Arg supplementation on L-Arg/NO metabolic and AMPK/ACC-1 signalling pathways in adipose cells (3T3 L1)
by: Saranya Prashath
Published: (2025-08-01)