PMID- 14714270
OWN - NLM
STAT- MEDLINE
DCOM- 20040823
LR  - 20131121
IS  - 0947-7349 (Print)
IS  - 0947-7349 (Linking)
VI  - 111
IP  - 8
DP  - 2003 Dec
TI  - Calcium metabolism and endocrine functions in a family with familial 
      hypocalciuric hypercalcemia.
PG  - 486-90
AB  - 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. 
      DESIGN: 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.
FAU - Speer, G
AU  - Speer G
AD  - 1st Department of Medicine, Faculty of Medicine, Semmelweis University, Budapest, 
      Koranyi 2/a, 1083, Hungary. speerga@bel1.sote.hu
FAU - Toth, M
AU  - Toth M
FAU - Niller, H-H
AU  - Niller HH
FAU - Salamon, D
AU  - Salamon D
FAU - Takacs, I
AU  - Takacs I
FAU - Miheller, P
AU  - Miheller P
FAU - Patocs, A
AU  - Patocs A
FAU - Nagy, Z
AU  - Nagy Z
FAU - Bajnok, E
AU  - Bajnok E
FAU - Nyiri, P
AU  - Nyiri P
FAU - Lakatos, P
AU  - Lakatos P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Exp Clin Endocrinol Diabetes
JT  - Experimental and clinical endocrinology & diabetes : official journal, German 
      Society of Endocrinology [and] German Diabetes Association
JID - 9505926
RN  - 0 (Codon)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Adult
MH  - Base Sequence
MH  - Bone Density
MH  - Calcium/*metabolism/*urine
MH  - Codon
MH  - Endocrine Glands/*physiopathology
MH  - Female
MH  - *Genes, Dominant
MH  - Heterozygote
MH  - Humans
MH  - Hypercalcemia/genetics/metabolism/*physiopathology/urine
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Receptors, Calcium-Sensing/genetics
EDAT- 2004/01/10 05:00
MHDA- 2004/08/24 05:00
CRDT- 2004/01/10 05:00
PHST- 2004/01/10 05:00 [pubmed]
PHST- 2004/08/24 05:00 [medline]
PHST- 2004/01/10 05:00 [entrez]
AID - 10.1055/s-2003-44708 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 2003 Dec;111(8):486-90. doi: 10.1055/s-2003-44708.