Literature DB >> 24763815

Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy.

Abhishek Kulkarni1, Mahesh Mohite, Ramaa Vijaykumar, Prasanna Bansode, Sachin Murade, Parag M Tamhankar.   

Abstract

The authors report a 14-d-old neonate who presented with lethargy, polyuria and dehydration and was found to have severe hypercalcemia with hyperparathyroidism. This neonate was treated with saline hydration, diuresis and injection pamidronate. Genetic analysis revealed a compound heterozygous mutation of CaSR.

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Year:  2014        PMID： 24763815     DOI： 10.1007/s12098-014-1442-3

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  7 in total

1.  Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism.

Authors:  Bryan K Ward; Aaron L Magno; Elizabeth A Davis; Aylin C Hanyaloglu; Bronwyn G A Stuckey; Mark Burrows; Karin A Eidne; Adrian K Charles; Thomas Ratajczak
Journal:  J Clin Endocrinol Metab       Date:  2004-08       Impact factor: 5.958

2.  Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.

Authors:  M Kobayashi; H Tanaka; K Tsuzuki; M Tsuyuki; H Igaki; Y Ichinose; K Aya; N Nishioka; Y Seino
Journal:  J Clin Endocrinol Metab       Date:  1997-08       Impact factor: 5.958

3.  New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).

Authors:  Luiza Souza Rodrigues; Ana Carolina Arias Cáu; Luciane Zgoda Bussmann; Gabriela Bastida; Oscar H Brunetto; Pedro Henrique Silveira Corrêa; Regina Matsunaga Martin
Journal:  Arq Bras Endocrinol Metabol       Date:  2011-02

4.  An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

Authors:  N Chikatsu; S Fukumoto; M Suzawa; Y Tanaka; Y Takeuchi; S Takeda; Y Tamura; T Matsumoto; T Fujita
Journal:  Clin Endocrinol (Oxf)       Date:  1999-04       Impact factor: 3.478

5.  Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.

Authors:  Kozue Miyashiro; Ilda Kunii; Thais Della Manna; Hamilton C de Menezes Filho; Durval Damiani; Nuvarte Setian; Omar M Hauache
Journal:  J Clin Endocrinol Metab       Date:  2004-12       Impact factor: 5.958

6.  Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.

Authors:  Peter H Nissen; Signe E Christensen; Lene Heickendorff; Kim Brixen; Leif Mosekilde
Journal:  J Clin Endocrinol Metab       Date:  2007-08-14       Impact factor: 5.958

7.  A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia.

Authors:  Ksenia N Tonyushkina; Stephen O'Connor; Nancy S Dunbar
Journal:  Int J Pediatr Endocrinol       Date:  2012-05-23
  7 in total
  2 in total

1.  Genotype-Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism.

Authors:  Anima Sharma; Saba Memon; Anurag R Lila; Vijaya Sarathi; Sneha Arya; Swati S Jadhav; Priya Hira; Mahadeo Garale; Vikrant Gosavi; Manjiri Karlekar; Virendra Patil; Tushar Bandgar
Journal:  Calcif Tissue Int       Date:  2022-05-14       Impact factor: 4.000

2.  Neonatal Severe Primary Hyperparathyroidism: A Series of Four Cases and their Long-term Management in India.

Authors:  Dhalapathy Sadacharan; Shriraam Mahadevan; Smitha S Rao; A Prem Kumar; S Swathi; Senthil Kumar; Subramanian Kannan
Journal:  Indian J Endocrinol Metab       Date:  2020-04-30
  2 in total

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