Familial Hypocalciuric Hypercalcemia in a Woman with Metastatic Breast Cancer: A Case Report of Mistaken Identity

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 11, 2003, Pages 5132-5136

  Marcocci, Claudio ^a   Borsari, Simona ^a   Pardi, Elena ^a   Dipollina, Giada ^a   Giacomelli, Tamara ^a   Pinchera, Aldo ^a   Cetani, Filomena ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; CALCIUM; CALCIUM SENSING RECEPTOR; INOSITOL PHOSPHATE; PARATHYROID HORMONE;

ADULT; BREAST CARCINOMA; BREAST METASTASIS; CALCIUM BLOOD LEVEL; CALCIUM URINE LEVEL; CASE REPORT; CASE STUDY; CELL STRAIN COS7; CONFERENCE PAPER; CREATININE CLEARANCE; EVALUATION; EXON; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; MISSENSE MUTATION; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PROTEIN EXPRESSION; RELATIVE;

ADOLESCENT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CALCIUM; DIAGNOSTIC ERRORS; DIPHOSPHONATES; FAMILY HEALTH; FEMALE; HUMANS; HYPOCALCEMIA; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CALCIUM-SENSING;

POMACANTHUS MACULOSUS;

EID: 0344442679     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030739     Document Type: Conference Paper

References (14)

1. Mundy GR, Guise TA 1997 Hypercalcemia of malignancy. Am J Med 103: 134-145
2. Juppner H, Abou-Samra A, Freeman M, Kong XF, Schipani E, Richards J, Kolakowski Jr LF, Hock J, Potts Jr JT, Kronenberg HM 1991 G protein linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 254:1024-1026
3. Brown EM, MacLeod RJ 2001 Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev 81:239-297
4. Cetani F, Pardi E, Borsari S, Tonacchera M, Morabito E, Pinchera A, Marcocci C 2003 Two Italian kindreds with familial hypocalciuric hypercalcemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation. Clin Endocrinol (Oxf) 58:199-206
5. Cetani F, Pinchera A, Pardi E, Cianferotti L, Vignali E, Picone A, Miccoli P, Viacava P, Marcocci C 1999 No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas. J Bone Miner Res 14:878-882
6. 2+ set-point in patients with primary hyperparathyroidism. J Clin Endocrinol Metab 85:4789-4794
7. Iguci H, Miyagi C, Tomita K, Kawauchi S, Nozuka Y, Tsuneyoshi M, Wakasugi H 1998 Hypercalcemia caused by ectopic production of parathyroid hormone in a patient with papillary adenocarcinoma of the thyroid gland. J Clin Endocrinol Metab 83:2653-2657
8. Fierabracci P, Pinchera A, Miccoli P, Conte PF, Vignali E, Zaccagnini M, Marcocci C, Giani C 2001 Increased prevalence of primary hyperparathyroidism in treated breast cancer. J Endocrinol Invest 24:315-320
9. Pace AJ, Gama L, Breitwieser GE 1999 Dimerization of the calcium-sensing receptor occurs within the extracellular domain and is eliminated by Cys→Ser mutations at Cys101 and Cys236. J Biol Chem 274:11629-116334
10. Zang Z, Sun S, Quin SJ, Brown EM, Bai M 2001 The extracellular calcium-sensing receptor dimerizes through multiple types of intermolecular interactions. J Biol Chem 276:5316-5322
11. Brown EM 2000 Calcium receptor and regulation of parathyroid hormone secretion. Rev Endocr Metab Disord 1:307-315
12. Pearce SHS, Bai M, Quin SJ, Kifor O, Brown EM, Thakker RV 1996 Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 98:1860-1866
13. 2+ sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 99:88-96
14. Pearce SHS, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, Thakker RV 1995 Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692