title: [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
abstract: 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.
authors.affiliation: Department of Medicine, Division of Nephrology and Endocrinology, University of Tokyo.
authors.forename: Sumiyo
authors.initials: S
authors.lastname: Watanabe
authors.forename: Seiji
authors.initials: S
authors.lastname: Fukumoto
mesh_terms: D002118:Calcium / Q000652:urine*; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D006961:Hyperparathyroidism / Q000235:genetics*; D007231:Infant, Newborn; D009154:Mutation; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D002118:Calcium