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Calcium-sensing receptor

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16 papers 25 to 100 followers
By P O Pediatrics, Nephrology
Sarah A Howles, Fadil M Hannan, Valerie N Babinsky, Angela Rogers, Caroline M Gorvin, Nigel Rust, Tristan Richardson, Malachi J McKenna, M Andrew Nesbit, Rajesh V Thakker
No abstract text is available yet for this article.
April 7, 2016: New England Journal of Medicine
Bernhard Mayr, Dirk Schnabel, Helmuth-Günther Dörr, Christof Schöfl
The calcium-sensing receptor (CASR) is the main calcium sensor in the maintenance of calcium metabolism. Mutations of the CASR, the G protein alpha 11 (GNA11) and the adaptor-related protein complex 2 sigma 1 subunit (AP2S1) genes can shift the set point for calcium sensing causing hyper- or hypo-calcemic disorders. Therapeutic concepts for these rare diseases range from general therapies of hyper- and hypo-calcemic conditions to more pathophysiology oriented approaches such as parathyroid hormone (PTH) substitution and allosteric CASR modulators...
May 2016: European Journal of Endocrinology
Tariq I Alfadda, Ahmad M A Saleh, Pascal Houillier, John P Geibel
The calcium-sensing receptor (CaSR) has played an important role as a target in the treatment of a variety of disease states over the past 20 plus years. In this review, we give an overview of the receptor at the cellular level and then provide details as to how this receptor has been targeted to modulate cellular ion transport mechanisms. As a member of the G protein-coupled receptor (GPCR) family, it has a high degree of homology with a variety of other members in this class, which could explain why this receptor has been identified in so many different tissues throughout the body...
August 1, 2014: American Journal of Physiology. Cell Physiology
Piero Stratta, Guido Merlotti, Claudio Musetti, Marco Quaglia, Alessia Pagani, Cristina Izzo, Elisabetta Radin, Andrea Airoldi, Filomena Baorda, Teresa Palladino, Maria Pia Leone, Vito Guarnieri
BACKGROUND: Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit α11 (GNA11) and of the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes are responsible for familial hypocalciuric hypercalcaemia (FHH). The aim of this study was to analyse prevalence and pathogenicity of CaSR, GNA11 and AP2S1 mutations in patients with an FHH phenotype and to compare them with a sample of patients with primary hyperparathyroidism (PHPT) in order to identify the most useful laboratory parameter for a differential diagnosis...
October 2014: Nephrology, Dialysis, Transplantation
Chen Zhang, Cassandra Lynn Miller, Edward M Brown, Jenny J Yang
The Ca(2+)-sensing receptor (the CaSR), a G-protein-coupled receptor, regulates Ca(2+) homeostasis in the body by monitoring extracellular levels of Ca(2+) ([Ca(2+)]o) and responding to a diverse array of stimuli. Mutations in the Ca(2+)-sensing receptor result in hypercalcemic or hypocalcemic disorders, such as familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and autosomal dominant hypocalcemic hypercalciuria. Compelling evidence suggests that the CaSR plays multiple roles extending well beyond not only regulating the level of extracellular Ca(2+) in the human body, but also controlling a diverse range of biological processes...
January 2015: Science China. Life Sciences
Katsumi Taki, Takahiko Kogai, Junko Sakumoto, Takashi Namatame, Akira Hishinuma
UNLABELLED: A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case of asymptomatic hypocalciuric hypercalcemia with a de novo heterozygous mutation in CASR, S591C, which is primarily reported to be responsible for NHPT. A 54-year-old female was referred for investigation of asymptomatic hypercalcemia that was initially found in the 1980s but without a history of bone disease during the perinatal period...
2015: Endocrinology, Diabetes & Metabolism Case Reports
Fadil M Hannan, Sarah A Howles, Angela Rogers, Treena Cranston, Caroline M Gorvin, Valerie N Babinsky, Anita A Reed, Clare E Thakker, Detlef Bockenhauer, Rosalind S Brown, John M Connell, Jacqueline Cook, Ken Darzy, Sarah Ehtisham, Una Graham, Tony Hulse, Steven J Hunter, Louise Izatt, Dhavendra Kumar, Malachi J McKenna, John A McKnight, Patrick J Morrison, M Zulf Mughal, Domhnall O'Halloran, Simon H Pearce, Mary E Porteous, Mushtaqur Rahman, Tristan Richardson, Robert Robinson, Isabelle Scheers, Haroon Siddique, William G Van't Hoff, Timothy Wang, Michael P Whyte, M Andrew Nesbit, Rajesh V Thakker
The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2σ2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calcium (Ca(2+) o) homeostasis. To elucidate the role of AP2σ2 in Ca(2+) o regulation, we investigated 65 FHH probands, without other FHH-associated mutations, for AP2σ2 mutations, characterized their functional consequences and investigated the genetic mechanisms leading to FHH3...
September 15, 2015: Human Molecular Genetics
Hakan R Toka, Martin R Pollak, Pascal Houillier
In addition to its prominent role in the parathyroid gland, the calcium-sensing receptor (CaSR) is expressed in various tissues, including the kidney. This article reviews current data on the calcium-sensing properties of the kidney, the localization of the CaSR protein along the nephron, and its function in calcium homeostasis and in hypercalciuria.
July 2015: Physiology
Marisa M Fisher, Susanne M Cabrera, Erik A Imel
UNLABELLED: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutations that result in life-threatening hypercalcemia and metabolic bone disease. Until recently, therapy has been surgical parathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Here we present the detailed description of two unrelated patients with NSHPT due to heterozygous R185Q CASR mutations...
2015: Endocrinology, Diabetes & Metabolism Case Reports
Isaac Levy, Christoph Licht, Alan Daneman, Etienne Sochett, Jennifer Harrington
CONTEXT: Adults with hypoparathyroidism have significant rates of nephrocalcinosis and impaired renal function. Little is known about the impact of hypoparathyroidism treatment on renal function in children. OBJECTIVES: To determine the prevalence and predictors for renal abnormalities (nephrocalcinosis and decreased estimated glomerular filtration rate [eGFR]) in children with treated hypoparathyroidism. DESIGN AND SETTING: A retrospective chart review of patients with permanent hypoparathyroidism at the Hospital for Sick Children, Toronto, between 1996 and 2013...
November 2015: Journal of Clinical Endocrinology and Metabolism
Marianne C Astor, Kristian Løvås, Anette S B Wolff, Bjørn Nedrebø, Eirik Bratland, Jon Steen-Johnsen, Eystein S Husebye
Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. Homozygous mutations in the magnesium transporter gene transient receptor potential cation channel member 6 (TRPM6) cause the disease. HSH can be misdiagnosed as primary hypoparathyroidism. The aim of this study was to describe the genetic, clinical and biochemical features of patients clinically diagnosed with HSH in a Norwegian cohort...
December 2015: Endocrine Connections
Keun Hee Choi, Choong Ho Shin, Sei Won Yang, Hae Il Cheong
The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR...
April 2015: Korean Journal of Pediatrics
Eugenio Mastromatteo, Olga Lamacchia, Michela Rosaria Campo, Antonella Conserva, Filomena Baorda, Luigia Cinque, Vito Guarnieri, Alfredo Scillitani, Mauro Cignarelli
BACKGROUND: Familial Hyperparathyroidism (HPT) and Familial benign Hypocalciuric Hypercalcemia (FHH) are the most common causes of hereditary hypercalcemia. FHH has been demonstrated to be caused by inactivating mutations of calcium-sensing receptor (CaSR) gene, involved in PTH regulation as well as in renal calcium excretion. CASE PRESENTATION: In two individuals, father and son, we found a novel heterozygous mutation in CaSR gene. The hypercalcemia was present only in father, which, by contrast to the classic form of FHH showed hypercalciuria (from 300 to 600 mg/24 h in different evaluations) and a Calcium/Creatinine ratio of 0...
2014: BMC Endocrine Disorders
Ichiro Miyata, Hideki Yoshikawa, Naokiyo Kurokawa, Kei-Ichi Kanno, Yoshihiro Hayashi, Yoshikatsu Eto
We experienced a case of familial hypoparathyroidism with an autosomal dominant pattern of transmission and performed molecular analysis of the calcium-sensing receptor (CASR) gene. The patient was a female neonate, born by cesarean section at term because of breech presentation. Her mother had been diagnosed with idiopathic hypoparathyroidism at the age of 9 yr and had been receiving vitamin D treatment since then. At birth, the patient's serum calcium concentration was 8.4 mg/dl, but it fell to 4.0 mg/dl on the fifth day after birth...
2008: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
Geoffrey N Hendy, Lucie Canaff, Ron S Newfield, Liana Tripto-Shkolnik, Betty Y L Wong, Bonnie S P Lee, David E C Cole
CONTEXT: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder with three known subtypes: FHH1, FHH2, and FHH3. About 65% of FHH cases are FHH1, caused by inactivating mutations of the calcium-sensing receptor (CASR) gene. FHH3 was recently found to be caused by codon Arg15 (p.R15) mutations in the adaptor-related protein complex 2, σ-2 subunit that interacts with the CaSR and is encoded by the AP2S1 gene. OBJECTIVE: The objective of the study was to assess the prevalence of AP2S1 mutations, and describe the phenotype of FHH3, in an independent cohort of FHH subjects lacking CASR mutations...
July 2014: Journal of Clinical Endocrinology and Metabolism
Anthony W Gannon, Heather M Monk, Michael A Levine
CONTEXT: Neonatal severe hyperparathyroidism (NSHPT) is a severe form of familial hypocalciuric hypercalcemia characterized by severe hypercalcemia and skeletal demineralization. In most cases, NSHPT is due to biallelic loss-of-function mutations in the CASR gene encoding the calcium-sensing receptor (CaSR), but some patients have heterozygous mutations. Conventional treatment consists of iv saline, bisphosphonates, and parathyroidectomy. OBJECTIVE: The aim of this project was to characterize the molecular basis for NSHPT in an affected newborn and to describe the response to monotherapy with cinacalcet...
January 2014: Journal of Clinical Endocrinology and Metabolism
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