Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: Coincidence or causality?

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 3, 2002, Pages 1015-1016

  Burski, K ^a   Torjussen, B ^a   Paulsen, A Q ^b   Boman, H ^c   Bollerslev, Jens ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b Aust Agder Central Hospital   (Norway)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; CLODRONIC ACID;

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; LABORATORY TEST; PARATHYROID ADENOMA; PRIORITY JOURNAL; REHYDRATION; THYROIDECTOMY; TREATMENT OUTCOME;

EID: 0036962244     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.87.3.8304     Document Type: Article

References (11)

1. Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs Jr RW, Lasker RD 1981 The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine 60:397-412
2. Law Jr WM, Heath III H 1985 Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families. Ann Intern Med 102:511-519
3. Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM 1994 Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 93:1108-1112
4. Brown EM, Pollak M, Seidman CE, et al. 1995 Calcium-ion-sensing cell-surface receptors. N Engl J Med 333:234-240
5. Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV 1999 Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. Am J Hum Genet 64:189-195
6. Brown EM, Hebert SC 1997 Calcium-receptor-regulated parathyroid and renal function. Bone 20:303-309
7. Pearce SH, Bai M, Quinn 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
8. Marx SJ 2000 Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 343:1863-1875
9. Law Jr WM, James EM, Charboneau JW, Purnell DC, Heath III H 1984 High-resolution parathyroid ultrasonography in familial benign hypercalcemia (familial hypocalciuric hypercalcemia). Mayo Clin Proc 59:153-155
10. Boman H, Lövlie R, Knappskog PM 2001 Three new mutations and eight genetic variants in the calcium sensing receptor (CASR) gene. Eur J Hum Genet 6:114
11. Carling T, Szabo E, Bai M, Ridefelt G, Westin G, Gustausson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J 2000 Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 85:2042-2047