title: Calcium metabolism and endocrine functions in a family with familial hypocalciuric hypercalcemia.
abstract: OBJECTIVE
  We report two Hungarian patients with familial hypocalciuric hypercalcemia (FHH) caused by a mutation of the calcium-sensing receptor (CaSR) at codon 55. The proband and her father were heterozygous for this mutation.
  
  
  METHODS
  We performed detailed clinical and laboratory assessments of this family to characterize the effects of CaSR mutation on several endocrine organs expressing CaSR.
  
  
  RESULTS
  Interestingly, we could not detect any failure in the function of any tissues we examined, except in serum calcium levels.
  
  
  CONCLUSIONS
  To our knowledge, this has been the first report from Eastern and Central Europe showing P55 L mutation of the CaSR, as well as the first publication discussing the effect of this mutation on several endocrine systems containing CASR.
authors.affiliation: 1st Department of Medicine, Faculty of Medicine, Semmelweis University, Budapest, Korányi 2/a, 1083, Hungary. speerga@bel1.sote.hu
authors.forename: G
authors.initials: G
authors.lastname: Speer
authors.forename: M
authors.initials: M
authors.lastname: Tóth
authors.forename: H-H
authors.initials: HH
authors.lastname: Niller
authors.forename: D
authors.initials: D
authors.lastname: Salamon
authors.forename: I
authors.initials: I
authors.lastname: Takács
authors.forename: P
authors.initials: P
authors.lastname: Miheller
authors.forename: A
authors.initials: A
authors.lastname: Patócs
authors.forename: Z
authors.initials: Z
authors.lastname: Nagy
authors.forename: E
authors.initials: E
authors.lastname: Bajnok
authors.forename: P
authors.initials: P
authors.lastname: Nyiri
authors.forename: P
authors.initials: P
authors.lastname: Lakatos
mesh_terms: D000328:Adult; D001483:Base Sequence; D015519:Bone Density; D002118:Calcium / Q000378:metabolism* / Q000652:urine*; D003062:Codon; D004702:Endocrine Glands / Q000503:physiopathology*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology* / Q000652:urine; D008297:Male; D008875:Middle Aged; D009154:Mutation; D044169:Receptors, Calcium-Sensing / Q000235:genetics
chemical_list: D003062:Codon; D044169:Receptors, Calcium-Sensing; D002118:Calcium