Neonatal hypercalcemia

Journal of Nephrology

Volumn 16, Issue 4, 2003, Pages 606-608

  Rodríguez Soriano, Juan ^a  

^a HOSPITAL DE CRUCES   (Spain)

Author keywords

Calcium sensing receptor; Hypercalcemia; Hyperparathyroisism; Infancy

Indexed keywords

AMINO ACID; CALCIUM; CALCIUM SALT; CALCIUM SENSING RECEPTOR; PARATHYROID HORMONE;

BRADYCARDIA; CALCIUM EXCRETION; CELL PROLIFERATION; CONFERENCE PAPER; DEHYDRATION; DISEASE SEVERITY; EXTRACELLULAR CALCIUM; FAMILIAL HYPOCALCIURUC HYPERCALCEMIA; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HORMONE RELEASE; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; HYPERPARATHYROIDISM; HYPERTENSION; HYPOCALCIURIA; IDIOPATHIC HYPERCALCIURIA; INFANTILE HYPOTONIA; KIDNEY CALCIFICATION; KIDNEY FUNCTION; LETHARGY; NEWBORN; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROIDECTOMY; POLYURIA; SEIZURE; URINARY EXCRETION; VITAMIN D INTOXICATION;

CALCIUM-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; INCIDENCE; INFANT, NEWBORN; MALE; MUTATION; PARATHYROID HORMONE; PROGNOSIS; RISK ASSESSMENT; SPAIN;

EID: 1642435644     PISSN: 11218428     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (21)

1. Bai M, Pearce SH, Kifor O, Trivedi S, Stauffner UG, Thakker RV, Brown EM. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation of the Ca2+ -sensing receptor gene: Normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 1997; 99: 88-96.
2. Brown EM, Pollack M, Herbert SC. The extracellular calcium-sensing receptor: Its role on health and disease. Annu Rev Med 1998; 49: 15-29.
3. Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 2000; 85: 2042-7.
4. Chou YW, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marxs SJ, Brown EM, Seidman JG, Seidman CE. Mutations in the human Ca2+ -sensing receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 1995; 56: 1075-9.
5. Cole DE, Janicic N, Salisbury SR, Hendy GN. Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivating Alu insertion mutation in the calcium-sensing receptor gene. Am J Med Genet 1997; 71: 202-10.
6. Harris SS, D'Ercole AJ. Neonatal hyperparathyroidism: The natural course in the absence of surgical intervention. Pediatrics 1989; 83: 53-6.
7. Health H III, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: Evidence for locus heterogeneity. Am J Hum Genet 1993; 53: 192-200.
8. Heath H III, Odelberg S, Jackson CE, Teh BT, Hayward N, Larsson C, Buist NR, Krapcho KJ, Hung BC, Capuano IV, Garrett JE, Leppert MF. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 1996; 81: 1312-7.
9. Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOK), to chromosome 19q13. Am J Hum Genet 1999; 64: 189-95.
10. Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW, Lasker RD. The hypocalciuric benign variant of familial hypercalcemia: Clinical and biochemical features in fifteen kindreds. Medicine 1981; 60: 397-412.
11. Marx SJ. Hyperparathyroidism and hypoparathyroidism disorders. N Engl J Med 2000; 343: 1863-75.
12. Monfort-Gouraud M, Lanza M, Meyer A, Roussel M, Badoual J. Une cause rare d'hypercalcémie; l'hypercalcémie hypocalciurique familiale. Arch Fr Pediatr 1993; 50: 335-7.
13. Page LA, Haddow JE. Self-limited neonatal hyperparathydoisim in familial hypocalciuric hypercalcemia. J Pediatr 1987; 111: 261-4.
14. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, Thakker RV. Calcium-sensing receptor mutations in familial bennign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995; 96: 2683-92.
15. Petrucci M, Scott P, Quimet D, Trouvé M-L, Proulx Y, Valiquette L, Guay G, Bonnardeaux A. Evaluation of the calcium sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis. Kidney Int 2000; 58: 38-42.
16. Pollak MR; Brown EM, Wu Chou Y-H, Herbert SC, Marx SJ, Steinmann B, Levi T, Seidman JG. Mutations in the human Ca2+ -sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyper-parathyroidism. Cell 1993; 75: 1297-303.
17. Rudd C, Goodyer P. Hypercalcemia in the newborn: Etiology, evaluation, and management. Pediatr Nephrol 1999; 13: 542-7.
18. Stratakis CA, Schussheim DH, Freedham SM, Keil MF, Pack SD, Agarwall SK, Skarulis MC, Weil RJ, Lubensky IA, Zhuang Z, Oldfield EH, Marx SJ. Pituitary macroadenoma in a 5-year-old: An early expression of multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 2000; 85: 4775-80.
19. Brown EM, Pollack M, Herbert SC. The extracellular calcium-sensing receptor: Its role on health and disease. Annu Rev Med 1998; 49: 15-29.
20. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, Thakker RV. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995; 96: 2683-92.
21. Rudd C, Goodyer P. Hypercalcemia of the newborn: Etiology, evaluation, and management. Pediatr Nephrol 1999; 13: 542-7.