Literature DB >> 25039540

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.

Signe B Thim1, Niels H Birkebaek1, Peter H Nissen2, Christian Høst1.   

Abstract

UNLABELLED: Autosomal dominant hypocalcaemia (ADH) is caused by activating variants in the calcium-sensing receptor (CASR) gene, but detailed information on the paediatric phenotype is limited. The current paper presents a case of severe ADH and systematically reviews the literature on ADH in children.
CONCLUSION: We found that the severity of clinical neurological symptoms was inversely related to serum calcium levels and a high prevalence of renal calcifications and/or basal ganglia calcifications in children with ADH. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  Calcium-sensing receptor; Hypocalcaemia; Neonatal; Paediatric; Seizures

Mesh：

Substances：

Year:  2014        PMID： 25039540     DOI： 10.1111/apa.12743

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0803-5253            Impact factor:   2.299


  5 in total

Review 1.  Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review.

Authors:  Yingying Wu; Chao Zhang; Xiaojun Huang; Li Cao; Shihua Liu; Ping Zhong
Journal:  J Int Med Res       Date:  2022-07       Impact factor: 1.573

2.  Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.

Authors:  Sirpa Tenhola; Raimo Voutilainen; Monica Reyes; Sanna Toiviainen-Salo; Harald Jüppner; Outi Mäkitie
Journal:  Eur J Endocrinol       Date:  2016-06-22       Impact factor: 6.664

Review 3.  The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Authors:  Rebecca Siu Ga Tan; Christy Hui Lin Lee; Henrik Dimke; R Todd Alexander
Journal:  Exp Biol Med (Maywood)       Date:  2021-04-29

4.  The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).

Authors:  Fadil M Hannan; Gerard V Walls; Valerie N Babinsky; M Andrew Nesbit; Enikö Kallay; Tertius A Hough; William D Fraser; Roger D Cox; Jianxin Hu; Allen M Spiegel; Rajesh V Thakker
Journal:  Endocrinology       Date:  2015-06-08       Impact factor: 4.736

5.  Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.

Authors:  Marianne S Elston; Taha Elajnaf; Fadil M Hannan; Rajesh V Thakker
Journal:  J Endocr Soc       Date:  2022-03-18
  5 in total

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