PMID- 11857921
OWN - NLM
STAT- MEDLINE
DCOM- 20020423
LR  - 20131121
IS  - 0047-1852 (Print)
IS  - 0047-1852 (Linking)
VI  - 60
IP  - 2
DP  - 2002 Feb
TI  - [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism 
      caused by inactivating mutations of calcium-sensing receptor].
PG  - 325-30
AB  - Calcium-sensing receptor (CaSR) plays an essential role in regulating secretion 
      of parathyroid hormone. After the identification of CaSR, some cases of familial 
      hypocalciuric hypercalcemia (FHH) were shown to have heterozygous inactivating 
      mutations of CaSR. However, linkage study showed that there are additional two 
      genetic loci for FHH in addition to the chromosomal location of CaSR gene. 
      Furthermore, one family with heterozygous inactivating mutation of CaSR was shown 
      to exhibit hypercalcemia with hypercalciuria. Therefore, heterozygous 
      inactivating mutation of CaSR is not synonymous with FHH. In addition, patients 
      with neonatal severe hyperparathyroidism were shown to have homozygous or 
      compound heterozygous inactivating mutations of CaSR.
FAU - Watanabe, Sumiyo
AU  - Watanabe S
AD  - Department of Medicine, Division of Nephrology and Endocrinology, University of 
      Tokyo.
FAU - Fukumoto, Seiji
AU  - Fukumoto S
LA  - jpn
PT  - English Abstract
PT  - Journal Article
PT  - Review
PL  - Japan
TA  - Nihon Rinsho
JT  - Nihon rinsho. Japanese journal of clinical medicine
JID - 0420546
RN  - 0 (Receptors, Calcium-Sensing)
RN  - 0 (Receptors, Cell Surface)
RN  - SY7Q814VUP (Calcium)
SB  - IM
MH  - Calcium/*urine
MH  - Humans
MH  - Hypercalcemia/*genetics
MH  - Hyperparathyroidism/*genetics
MH  - Infant, Newborn
MH  - Mutation
MH  - Receptors, Calcium-Sensing
MH  - Receptors, Cell Surface/*genetics
RF  - 16
EDAT- 2002/02/23 10:00
MHDA- 2002/04/24 10:01
CRDT- 2002/02/23 10:00
PHST- 2002/02/23 10:00 [pubmed]
PHST- 2002/04/24 10:01 [medline]
PHST- 2002/02/23 10:00 [entrez]
PST - ppublish
SO  - Nihon Rinsho. 2002 Feb;60(2):325-30.