Hypocalciuric hypercalcemia due to de novo mutation of the calcium sensing receptor;Hipercalcemia hipocalciúrica debida a una mutación de novo del gen del receptor sensor del calcio

Medicina

Volumn 64, Issue 4, 2004, Pages 337-339

  Sarli, Marcelo ^a,b   Fradinger, Erich ^a   Zanchetta, José ^a  

^a UNIVERSIDAD DEL SALVADOR   (Argentina)

^b NONE

Author keywords

Calcium sensing receptor mutations; Familial hypocalciuric hypercalcemia

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; PARATHYROID HORMONE;

ADULT; CALCIUM BLOOD LEVEL; CASE REPORT; CONSULTATION; CREATININE CLEARANCE; FAMILY HISTORY; FEMALE; GENE INACTIVATION; GENE MUTATION; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; LABORATORY TEST; PARATHYROID DISEASE; PARATHYROID HORMONE RELEASE; REVIEW;

ADULT; CALCIUM; DIAGNOSIS, DIFFERENTIAL; ELECTROPHORESIS; FEMALE; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; MUTATION; RECEPTORS, CALCIUM-SENSING;

EID: 14944376844     PISSN: 00257680     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (10)

1. Heath H, Hodson S, Kenedy M. Primary hyperparathyroidism. Incidence, morbidity and potencial economic impact in a comunity. N Engl J Med 1980; 302: 189-93.
2. Mundy G, Cove D, Fisken R. Primary hiperparahyroidism. Changes in the pattern of clinical presentation. Lancet 1980; 1: 1317-20.
3. 2+- sensing receptor from bovine parathyroid. Nature 1993; 366: 575-80.
4. Arnold A, Shattuck T, Mallya S, Krebs L, Costa J, Gallagher J, Wild Y, Saucler K. Molecular pathogenesis of primary hyperparathyroidism. J Bone Miner Res 2002; 17 (suppl): 30-6.
5. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993; 75: 1297-303.
6. Heath H III, Odelberg S, Jackson CE, et al. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocr Metab 1996; 81: 1312-7.
7. Bai M, Pearce SHS, Kifor O, et al. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca 2+ - receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 1997; 99: 89-96.
8. Heath, D. Familial Hypocalciuric Hipercalcemia. In: J. P. Bilezikian, et al (eds). The Parathyroids. New York: Raven Press; 1994. p 699-710.
9. Burski K, Tourjussen B, Paulsen A, Borman H, Bolleslev J. Parathyroid adenoma in a subject with familial hipocalciuric hypercalcemia: Coincidence or causality?. J Clin Endocrinol Metab 2002; 87: 1015-6.
10. Marx SJ. Hyperparathyroidism and hypoparathyroid disorders. N Engl J Med 2000; 343: 1863-75.