Símil secreción inapropiada de hormona antidiurética | 29 ENE 06
Síndrome nefrogénico de antidiuresis inapropiada
Se propone como causa la producción de mutaciones en el gen receptor de vasopresina V2.
Autor/a: Dres. Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG N Engl J Med. 2005 May 5;352(18):1884-90.
Desarrollo
1. Robertson GL. Antidiuretic hormone: normal and disordered function. Endocrinol Metab Clin North Am 2001;30:671-694.
2. Morello JP, Bichet DG. Nephrogenic diabetes insipidus. Annu Rev Physiol 2001;63:607-630.
3. Bartter FC, Schwartz WB. The syndrome of inappropriate secretion of antidiuretic hormone. Am J Med 1967;42:790-806.
4. Bichet DG, Arthus MF, Lonergan M, et al. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest 1993;92:1262-1268.
5. Birnbaumer M, Gilbert S, Rosenthal W. An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. Mol Endocrinol 1994;8:886-894.
6. Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 2000;106:253-262.
7. Stables J, Scott S, Brown S, et al. Development of a dual glow-signal firefly and Renilla luciferase assay reagent for the analysis of G-protein coupled receptor signalling. J Recept Signal Transduct Res 1999;19:395-410.
8. Fluck CE, Martens JW, Conte FA, Miller WL. Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. J Clin Endocrinol Metab 2002;87:4318-4323.
9. Rosenthal W, Antaramian A, Gilbert S, Birnbaumer M. Nephrogenic diabetes insipidus: a V2 vasopressin receptor unable to stimulate adenylyl cyclase. J Biol Chem 1993;268:13030-13033.
10. Pierce KL, Premont RT, Lefkowitz RJ. Seven-transmembrane receptors. Nat Rev Mol Cell Biol 2002;3:639-650.
11. Spiegel AM, Weinstein LS. Inherited diseases involving G proteins and G protein-coupled receptors. Annu Rev Med 2004;55:27-39.
12. Seifert R, Wenzel-Seifert K. Constitutive activity of G-protein-coupled receptors: cause of disease and common property of wild-type receptors. Naunyn Schmiedebergs Arch Pharmacol 2002;366:381-416.
13. Bockaert J, Pin JP. Molecular tinkering of G protein-coupled receptors: an evolutionary success. EMBO J 1999;18:1723-1729.
14. Luttrell LM, Lefkowitz RJ. The role of beta-arrestins in the termination and transduction of G-protein-coupled receptor signals. J Cell Sci 2002;115:455-465.
15. Probst WC, Snyder LA, Schuster
2. Morello JP, Bichet DG. Nephrogenic diabetes insipidus. Annu Rev Physiol 2001;63:607-630.
3. Bartter FC, Schwartz WB. The syndrome of inappropriate secretion of antidiuretic hormone. Am J Med 1967;42:790-806.
4. Bichet DG, Arthus MF, Lonergan M, et al. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest 1993;92:1262-1268.
5. Birnbaumer M, Gilbert S, Rosenthal W. An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. Mol Endocrinol 1994;8:886-894.
6. Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 2000;106:253-262.
7. Stables J, Scott S, Brown S, et al. Development of a dual glow-signal firefly and Renilla luciferase assay reagent for the analysis of G-protein coupled receptor signalling. J Recept Signal Transduct Res 1999;19:395-410.
8. Fluck CE, Martens JW, Conte FA, Miller WL. Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. J Clin Endocrinol Metab 2002;87:4318-4323.
9. Rosenthal W, Antaramian A, Gilbert S, Birnbaumer M. Nephrogenic diabetes insipidus: a V2 vasopressin receptor unable to stimulate adenylyl cyclase. J Biol Chem 1993;268:13030-13033.
10. Pierce KL, Premont RT, Lefkowitz RJ. Seven-transmembrane receptors. Nat Rev Mol Cell Biol 2002;3:639-650.
11. Spiegel AM, Weinstein LS. Inherited diseases involving G proteins and G protein-coupled receptors. Annu Rev Med 2004;55:27-39.
12. Seifert R, Wenzel-Seifert K. Constitutive activity of G-protein-coupled receptors: cause of disease and common property of wild-type receptors. Naunyn Schmiedebergs Arch Pharmacol 2002;366:381-416.
13. Bockaert J, Pin JP. Molecular tinkering of G protein-coupled receptors: an evolutionary success. EMBO J 1999;18:1723-1729.
14. Luttrell LM, Lefkowitz RJ. The role of beta-arrestins in the termination and transduction of G-protein-coupled receptor signals. J Cell Sci 2002;115:455-465.
15. Probst WC, Snyder LA, Schuster
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