scholarly journals Common calcium-sensing receptor (CASR) gene variants do not modify risk for chronic pancreatitis in a Hungarian cohort

Pancreatology ◽  
2021 ◽  
Author(s):  
Amanda Takáts ◽  
Gergő Berke ◽  
Andrea Szentesi ◽  
Gyula Farkas ◽  
Ferenc Izbéki ◽  
...  
Pancreatology ◽  
2021 ◽  
Author(s):  
Maren Ewers ◽  
Lucie Canaff ◽  
Antonia EM. Weh ◽  
Emmanuelle Masson ◽  
Katharina Eiseler ◽  
...  

2019 ◽  
Vol 493 ◽  
pp. S229
Author(s):  
M. Ortiz Espejo ◽  
R. Batanero Maguregui ◽  
C. Montalban Carrasco ◽  
L. Ramos Ramos ◽  
R. García Sardina ◽  
...  

2014 ◽  
Vol 27 (3) ◽  
pp. 399
Author(s):  
Pedro Marques ◽  
Rita Santos ◽  
Branca Cavaco ◽  
Valeriano Leite

<strong>Introduction:</strong> Hypoparathyroidism is an entity associated with hypocalcemia, more frequently a consequence of neck surgery. An autoimmune etiology is rare and its diagnosis difficult to establish.<br /><strong>Clinical report:</strong> 52 year-old woman, with irrelevant past medical history and no significant familial conditions, referred because of hypocalcemia and basal ganglia calcifications, detected in the course of investigation of myalgias. Besides hypocalcemia (4.6 mg/ dL), hyperphosphatemia (8.7 mg/dL), undetectable parathyroid hormone and low urinary calcium, phosphorus and magnesium were present. Molecular analysis of CaSR gene excluded germinal mutations. Anti-calcium sensing receptor antibodies (anti-CaSR) were present. The patient is asymptomatic and normocalcemic under treatment with calcium and vitamin D.<br /><strong>Discussion:</strong> Although rare, hypocalcemia due to anti-CaSR hypoparathyroidism must be considered in the absence of previous neck surgery, hypocalcemic drugs, familial history or phenotype suggesting a genetic disorder. Low or undetectable parathyroid hormone excludes pseudohypoparathyroidism and anti-CaSR positivity establishes the diagnosis.<br /><strong>Keywords:</strong> Hypocalcemia; Hypoparathyroidism; Autoantibodies; Receptors, Calcium-Sensing.


2014 ◽  
Vol 81 (11) ◽  
pp. 1228-1229 ◽  
Author(s):  
Abhishek Kulkarni ◽  
Mahesh Mohite ◽  
Ramaa Vijaykumar ◽  
Prasanna Bansode ◽  
Sachin Murade ◽  
...  

2007 ◽  
Vol 92 (7) ◽  
pp. 2616-2623 ◽  
Author(s):  
Katerina Zajickova ◽  
Jana Vrbikova ◽  
Lucie Canaff ◽  
Peter D. Pawelek ◽  
David Goltzman ◽  
...  

Abstract Context: Familial hypocalciuric hypercalcemia (FHH) is a benign condition associated with heterogeneous inactivating mutations in the calcium-sensing receptor (CASR) gene. Objective: The objective of the study was to identify and characterize a CASR mutation in a moderately hypercalcemic, hyperparathyroid individual and his family and assess the influence of vitamin D status on the clinical expression of the defect. Subjects: We studied a kindred with FHH, in which the proband (a 34-yr-old male) was initially diagnosed with primary hyperparathyroidism due to frankly elevated serum PTH levels. Methods: CASR gene mutation analysis was performed on genomic DNA of the proband and family members. The mutant CASR was functionally characterized by transient transfection studies in kidney cells in vitro. Results: A novel heterozygous mutation (F180C, TTC&gt;TGC) in exon 4 of the CASR gene was identified. Although the mutant receptor was expressed normally at the cell surface, it was unresponsive with respect to intracellular signaling (MAPK activation) to increases in extracellular calcium concentrations. The baby daughter of the proband presented with neonatal hyperparathyroidism with markedly elevated PTH. Vitamin D supplementation of both the proband and the baby resulted in reduction of serum PTH levels to the normal range. The serum calcium level remained at a constant and moderately elevated level. Conclusion: The identification of a novel CASR gene mutation established the basis of the hypercalcemia in the kindred. Concomitant vitamin D deficiency modulates the severity of the presentation of FHH.


PLoS Genetics ◽  
2010 ◽  
Vol 6 (7) ◽  
pp. e1001035 ◽  
Author(s):  
Karen Kapur ◽  
Toby Johnson ◽  
Noam D. Beckmann ◽  
Joban Sehmi ◽  
Toshiko Tanaka ◽  
...  

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