title: Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Paediatrics, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Signe B
authors.initials: SB
authors.lastname: Thim
authors.affiliation: Department of Paediatrics, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Niels H
authors.initials: NH
authors.lastname: Birkebaek
authors.affiliation: Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Peter H
authors.initials: PH
authors.lastname: Nissen
authors.affiliation: Department of Paediatrics, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Christian
authors.initials: C
authors.lastname: Høst
mesh_terms: D002118:Calcium / Q000627:therapeutic use; D005260:Female; D014644:Genetic Variation; D006801:Humans; D053565:Hypercalciuria / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D006996:Hypocalcemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D007011:Hypoparathyroidism / Q000151:congenital* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D007223:Infant; D044169:Receptors, Calcium-Sensing / Q000235:genetics* / Q000502:physiology*
chemical_list: D044169:Receptors, Calcium-Sensing; D002118:Calcium
keywords: Calcium-sensing receptor; Hypocalcaemia; Neonatal; Paediatric; Seizures