A case of severe neonatal hyperparathyroidism due to defect in calcium receptors
https://doi.org/10.14341/probl201056427-33
Abstract
References
1. D'Souza-Li L., Yang B., Canaff L. et al. Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. J Clin Endocrinol Metab 2002; 87: 3: 1309-1318.
2. Hebert S.C. Extracellular calcium-sensing receptor: implications for calcium and magnesium handling in the kidney. Kidney. Int 1996; 50: 6: 2129-2139
3. Hauache O.M. Extracellular calcium-sensing receptor: structural and functional features and association with diseases. Braz J Med Biol Res 2001; 34: 5: 577-584.
4. Den Dunnen J.T., Antonarakis E. Nomenclature for the description of human sequence variations. Hum Genet 2001; 109: 121-124.
5. Ward B.K., Magno A.L., Davis E.A. et al. Functional Deletion of the Calcium-Sensing Receptor in a Case of Neonatal Severe Hyperparathyroidism. J Clin Endocrinol Metab 2004; 89: 8: 3721-3730.
6. Pearce S., Steinmann B. Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism. Clin Endocrinol (Oxf) 1999; 50: 691-693.
7. Garrett J.E., Capuano I.V., Hammerland L.G. et al. Molecular cloning and functional expression of human parathyroid calcium receptor cDNA. J Biol Chem 1995; 270: 12919-12925.
8. Руководство по детской эндокринологии. Под ред И.И. Дедова, В.А. Петерковой. М: Универсум паблишинг 2006; 600.
9. МакДермотт М.Т. Секреты эндокринологии. Пер. с англ. М: БИНОМ 1998; 416.
10. Marx S.J., Fraser D., Rapoport A. Familial hypocalciuric hypercalcemia: mild expression of the gene in heterozygotes and severe expression in homozygotes. Am J Med 1985; 78: 1: 15-22.
11. Aida K., Koishi S., Inoue M. et al. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca2+-sensing receptor gene. J Clin Endocrinol Metab 1995; 80: 9: 2594-2598.
12. Harris S.S., D'Ercole A.J. Neonatal hyperparathyroidism: the natural course in the absence of surgical intervention. Pediatrics 1989; 83: 1: 53-56.
13. Bai M., Pearce S.H., Kifor O. et al. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in 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: 1: 88-96.
14. Marx S.J., Attie M.F., Levine M.A. et al. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine 1981; 60: 6: 397-412.
15. Brown E.M., MacLeod R.J. Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev 2001; 81: 239-297.
16. Law W.M. Jr., Heath H.D. Familial benign hypercalcemia (hypocalciuric hypercalcemia): clinical and pathogenetic studies in 21 families. Ann Intern Med 1985; 102: 4: 511-519.
17. Pollak M.R., Chou Y.H., Marx S.J. et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: effect of mutant gene dosage on phenotype. J Clin Invest 1994; 93: 3: 1108-1112.
18. Kobayashi M., Tanaka H., Tsuzuki K. et al. Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. J Clin Endocrinol Metab 1997; 82: 8: 2716-2719.
19. Carling T., Szabo E., Bai M. et al. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab 2000; 85: 5: 2042-2047.
20. Pidasheva S., D'Souza-Li L., Canaff L. et al. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 2004; 24: 2: 107-111.
21. Pollak M.R., Brown E.M., Chou Y.H. et al. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993; 75: 7: 1297-1303.
22. Silve C., Petrel C., Leroy C. et al. Delineating a Ca2+ binding pocket within the venus flytrap module of the human calcium-sensing receptor. J Biol Chem 2005; 280: 45: 37917-37923.
23. Hendy G.N., D'Souza-Li L., Yang B. et al. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 2000; 16: 4: 281-296.
24. Hu J., McLarnon S.J., Mora S. et al. A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+. J Biol Chem 2005; 280: 6: 5113-5120.
Review
For citations:
Vitebskaia A.V., Petriaĭkina E.E., Razumovskiĭ A.I., Pavlov A.A., Tiul'pakov A.N. A case of severe neonatal hyperparathyroidism due to defect in calcium receptors. Problems of Endocrinology. 2010;56(4):27-33. https://doi.org/10.14341/probl201056427-33
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