Cargando…

Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor

BACKGROUND: In recent years, heterozygous loss-of-function mutations of the Calcium Sensing Receptor gene (CaSR) were implicated in different hypercalcemic syndromes besides familial hypocalciuric hypercalcemia (FHH), including neonatal severe primary hyperparathyroidism (NSHPT) and primary hyperpar...

Descripción completa

Detalles Bibliográficos
Autores principales:	Palmieri, Serena, Grassi, Giorgia, Guarnieri, Vito, Chiodini, Iacopo, Arosio, Maura, Eller-Vainicher, Cristina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818680/ https://www.ncbi.nlm.nih.gov/pubmed/35141253 http://dx.doi.org/10.3389/fmed.2021.809067

Ejemplares similares

SUN-362 Bone Involvement in Adult Patients Affected with Ehlers-Danlos Syndromes
por: Eller-Vainicher, Cristina, et al.
Publicado: (2020)

The degree of cortisol secretion is associated with diabetes mellitus and hypertension in patients with nonfunctioning adrenal tumors
por: Favero, Vittoria, et al.
Publicado: (2023)

Correction: The degree of cortisol secretion is associated with diabetes mellitus and hypertension in patients with nonfunctioning adrenal tumors
por: Favero, Vittoria, et al.
Publicado: (2023)

Update on denosumab in the management of postmenopausal osteoporosis: patient preference and adherence
por: Cairoli, Elisa, et al.
Publicado: (2015)

Secondary Osteoporosis: A Still Neglected Condition
por: Favero, Vittoria, et al.
Publicado: (2023)

Bone Disease in Long-Term Lung Transplant Survivors
por: Grassi, Giorgia, et al.
Publicado: (2023)

Energy Metabolism and Ketogenic Diets: What about the Skeletal Health? A Narrative Review and a Prospective Vision for Planning Clinical Trials on this Issue
por: Merlotti, Daniela, et al.
Publicado: (2021)

A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
por: Mastromatteo, Eugenio, et al.
Publicado: (2014)

Dietary calcium intake in a cohort of individuals evaluated for low bone mineral density: a multicenter Italian study
por: Cairoli, Elisa, et al.
Publicado: (2021)

Vitamin D and skeletal health in autoimmune bullous skin diseases: a case control study
por: Marzano, Angelo Valerio, et al.
Publicado: (2015)

Defining Nonfunctioning Adrenal Adenomas on the Basis of the Occurrence of Hypocortisolism after Adrenalectomy
por: Eller-Vainicher, Cristina, et al.
Publicado: (2020)

Hyperandrogenism by Liquid Chromatography Tandem Mass Spectrometry in PCOS: Focus on Testosterone and Androstenedione
por: Grassi, Giorgia, et al.
Publicado: (2020)

Pathophysiology and Management of Type 2 Diabetes Mellitus Bone Fragility
por: Eller-Vainicher, C., et al.
Publicado: (2020)

Low Bone Mineral Density and Its Predictors in Type 1 Diabetic Patients Evaluated by the Classic Statistics and Artificial Neural Network Analysis
por: Eller-Vainicher, Cristina, et al.
Publicado: (2011)

Recognition of Morphometric Vertebral Fractures by Artificial Neural Networks: Analysis from GISMO Lombardia Database
por: Eller-Vainicher, Cristina, et al.
Publicado: (2011)

Circulating IL-17A Levels in Postmenopausal Women with Primary Hyperparathyroidism
por: Dozio, E., et al.
Publicado: (2020)

Spine Bone Texture Assessed by Trabecular Bone Score in Active and Controlled Acromegaly: A Prospective Study
por: Sala, E, et al.
Publicado: (2021)

Vitamin D Status and SARS-CoV-2 Infection and COVID-19 Clinical Outcomes
por: Chiodini, Iacopo, et al.
Publicado: (2021)

Prevalence of Morphometric Vertebral Fractures in Patients With Type 1 Diabetes
por: Zhukouskaya, Volha V., et al.
Publicado: (2013)

An unusual presentation of neurosarcoidosis with progressive hearing loss
por: Taous, Abdellah, et al.
Publicado: (2017)

Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders
por: Canaff, Lucie, et al.
Publicado: (2022)

The Calcium-Sensing Receptor and the Parathyroid: Past, Present, Future
por: Conigrave, Arthur D.
Publicado: (2016)

Acute unilateral hearing loss as an unusual presentation of cholesteatoma
por: Thio, Daniel, et al.
Publicado: (2005)

Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors
por: Tavanti, Giulia Stefania, et al.
Publicado: (2021)

Unusual clinical presentation of primary aortoduodenal fistula
por: Bissacco, Daniele, et al.
Publicado: (2015)

SUN-614 Prediction of Hypertension, Diabetes and Fractures in Eucortisolemic Women by Measuring Parameters of Cortisol Milieu
por: Chiodini, Iacopo, et al.
Publicado: (2020)

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias
por: Gorvin, Caroline M, et al.
Publicado: (2018)

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
por: Capozza, Manuela, et al.
Publicado: (2018)

Coexistence of a Calcium-Sensing Receptor Mutation and Primary Hyperparathyroidism
por: Russell, Peyton, et al.
Publicado: (2023)

Effects of the therapy shift from cortisone acetate to modified-release hydrocortisone in a group of patients with adrenal insufficiency
por: Frigerio, Sofia, et al.
Publicado: (2023)

Optimization of a Monobromobimane (MBB) Derivatization and RP-HPLC-FLD Detection Method for Sulfur Species Measurement in Human Serum after Sulfur Inhalation Treatment
por: Roda, Barbara, et al.
Publicado: (2022)

Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
por: Capozza, Manuela, et al.
Publicado: (2019)

Hearing loss: an unusual presentation of neurobrucellosis: a case report
por: Sah, Prem Kumar, et al.
Publicado: (2023)

Hepatic pseudolesion as an unusual presentation of Fitz-Hugh-Curtis syndrome
por: Vicini, Simone, et al.
Publicado: (2021)

Primary and secondary hyperparathyroidism present different expressions of calcium-sensing receptor
por: Li, Xin, et al.
Publicado: (2023)

Mental Health in Patients With Adrenal Incidentalomas: Is There a Relation With Different Degrees of Cortisol Secretion?
por: Morelli, Valentina, et al.
Publicado: (2020)

Temperature sensing by the calcium-sensing receptor
por: Brennan, Sarah C., et al.
Publicado: (2023)

Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis
por: Poala, Serena Botto, et al.
Publicado: (2010)

SAT-351 A Novel Mutation in the Calcium-Sensing Receptor Gene Presenting in a Kindred as Autosomal Dominant Familial Hypocalciuric Hypercalcemia
por: Bushman, Jordan, et al.
Publicado: (2020)

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation
por: Razavi, Alireza, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_p1p2ar5atbgfaquti8cg2kqc4l