Bartter's, Gitelman's, and Gordon's syndromes: From physiology to molecular biology and back, yet still some unanswered questions

Nephron

Volumn 92, Issue SUPPL. 1, 2002, Pages 18-27

  Kamel, Kamel S ^a   Oh, Man S ^b   Halperin, Mitchell L ^a  

^a ST MICHAEL'S HOSPITAL   (Canada)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

Aldosterone; Calcium; Chloride; Cortical collecting duct; Magnesium; Potassium

Indexed keywords

BARTTER SYNDROME; CONFERENCE PAPER; FLOW RATE; GITELMAN SYNDROME; GORDON SYNDROME; HUMAN; HYPERKALEMIA; MOLECULAR DYNAMICS; PATHOPHYSIOLOGY; PHYSIOLOGY; POTASSIUM EXCRETION; POTASSIUM URINE LEVEL; PRIORITY JOURNAL; SODIUM ABSORPTION;

ALDOSTERONE; BARTTER SYNDROME; CALCIUM; CHLORIDES; HOMEOSTASIS; HUMANS; ION TRANSPORT; KIDNEY TUBULES, COLLECTING; MAGNESIUM; MODELS, BIOLOGICAL; POTASSIUM; RENAL TUBULAR TRANSPORT, INBORN ERRORS; SODIUM; SYNDROME;

EID: 12244262811     PISSN: 00282766     EISSN: None     Source Type: Journal    
DOI: 10.1159/000065373     Document Type: Conference Paper

References (50)

1. Scheinman SJ, Guay-Woodford LM, Thakker RV, Warnock DG: Mechanisms of disease: Genetic disorders of renal electrolyte transport. N Engl J Med 1999;340:1177-1187.
2. Giebisch G: Renal potassium transport: Mechanisms and regulation. Am J Physiol 1998;274: F817-F833.
3. Halperin ML, Kamel KS: Potassium. Lancet 1998;352:135-142.
4. Rossier BC: Cum Grano Salis: The epithelial sodium channel and the control of blood pressure. J Am Soc Nephrol 1997;8:980-992.
5. Rossier BC, Palmer LG: Mechanisms of aldo-sterone action on sodium and potassium transport; in Giebisch G (ed): The Kidney: Physiology and Pathophysiology. New York, Raven Press, 1992, pp 1373-1409.
6. Benos DJ: Amiloride: A molecular probe of sodium transport in tissues and cells. Am J Physiol 1982;242:C131-C145.
7. Schreiber MS, Chen C-B, Lessan-Pezeshki M, Halperin ML, Schlanger LE, Patnaik A, Ling BN, Kleyman TR: Antikaliuretic action of tri-methoprim is minimized by raising urine pH. Kidney Int 1996;49:82-87.
8. Schuster V, Stokes J: Chloride transport by the cortical and outer medullary collecting duct. Am J Physiol 1987;253:F203-F212.
9. Carlisle EJF, Donnelly SM, Ethier J, Quaggin SE, Kaiser U, Vasuvattakul S, Kamel KS, Halperin ML: Modulation of the secretion of potassium by accompanying anions in humans. Kidney Int 1991;39:1206-1212.
10. Halperin ML, Kamel KS: Dynamic interactions between integrative physiology and molecular medicine: The key to understand the mechanism of action of aldosterone in the kidney. Can J Physiol Pharm 2000;78:587-594.
11. Hollenberg NK, Williams GH: Abnormal renal function, sodium-volume homeostasis and renin system behavior in normal-renin essential hypertension: The evolution of the non-modulator concept; in Brenner BM (ed): Hypertension: Pathophysiology, Diagnosis, and Management. New York, Raven Press, 1995, pp 1837-1856.
12. Cogan MG: Angiotensin II: A powerful controller of sodium transport in the early proximal tubule. Hypertension 1990;15:451-458.
13. Levine DZ, Iacovitti M, Buckman S, Burns KD: Role of angiotensin II in dietary modulation of rat late distal tubule bicarbonate flux in vivo. J Clin Invest 1996;97:120-125.
14. Kurtzman NA, White MG, Rogers PW: The effect of potassium and extracellular volume on renal bicarbonate reabsorption. Metabolism 1973;22:483-492.
15. Steele A, deVeber H, Quaggin SE, Scheich A, Ethier J, Halperin ML: What is responsible for the diurnal variation in potassium excretion? Am J Physiol 1994;36:R554-R560.
16. Field MJ, Giebisch GJ: Hormonal control of renal potassium excretion. Kidney Int 1985;27:379-387.
17. Gordon RD: Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. Hypertension 1986;8:93-102.
18. Schambelan M, Sebastian A, Rector FC Jr: Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoal-dosteronism): Role of increased renal chloride reabsorption. Kidney Int 1981;19:716-727.
19. Wilson FH, Disse-Nocodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Archard J-M, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel ZJ, Lifton RP: Human hypertension caused by mutations in WNK kinases. Science 2001;293:1107-1112.
20. Kamel K, Ethier JH, Quaggin S, Levin A, Albert S, Carlisle EJF, Halperin ML: Studies to determine the basis for hyperkalemia in recipients of a renal transplant who are treated with cyclosporin. J Am Soc Nephrol 1992;2:1279-1284.
21. Hebert SC: Roles of Na-K-2Cl and Na-Cl co-transporters and ROMK potassium channels in urinary concentrating mechanism. Am J Physiol 1998;275:F325-F327.
22. + channels. Curr Opinion Nephrol Hypertens 1998;7:503-508.
23. Simon DB, Cruz DN, Lu Y, Lifton RP: Genotype-phenotype correlation of NCCT mutations and Gitelman's syndrome. J Am Soc Nephrol 1998;9:111A.
24. Kutznetsov G, Nigam SK: Folding of secretory and membrane proteins. N Engl J Med 1999;339:1688-1695.
25. Goldberg AL, Elledgie SJ, Harper JW: The cellular chamber of doom. Scient Am 2001;284:68-73.
26. Morello J-P, Salahpour A, Laperriere A, Bernier V, Arthus M-F, Lonergan M, Petaje-Repo U, Angers S, Morin D, Bichet DG, Bouvier M: Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J Clin Invest 2000;105:887-895.
27. Welch WJ, Howard M: Antagonists to the rescue. J Clin Invest 2000;105:853-854.
28. Wang WH, Hebert SC: The molecular biology of renal K+ channels; in Seldin DW, Giebisch G (ed): The Kidney: Physiology and Pathophysiology. Philadelphia, Lippincott/Williams & Wilkins, 2000, vol 1, pp 235-249.
29. Vandewalle A, Cluzeaud F, Bens M, Kieferle S, Steinmeyer K, Jentsch TJ: Localization and induction by dehydration of CIC-K channels in the rat kidney. Am J Physiol 1997;272:F678-F688.
30. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW: Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 2000;48:754-758.
31. Kamel KS, Harvey E, Douek K, Halperin ML: Studies on the pathogenesis of hypokalemia in Gitelman's syndrome: Role of bicarbonaturia and hypomagnesemia. Am J Nephrol 1998;18:42-49.
32. Kassirer JP, Schwartz WB: The response of normal man to selective depletion of hydrochloric acid. Am J Med 1966;40:10-18.
33. Kamel SK, Ethier J, Levin A, Halperin ML: Hypokalemia in the 'Beautiful People'. Am J Med 1990;90:534-536.
34. Kamel KS, Ethier JH, Richardson RMA, Bear RA, Halperin ML: Urine electrolytes and osmolality: When and how to use them. Am J Nephrol 1990;10:89-102.
35. Chan C, Lin S-H, Halperin ML: Why lesions of the loop of Henle (LOH) cause renal potassium (K) wasting. J Am Soc Nephrol 2000;11:103A.
36. Wilcox CS, Mitch WE, Kelly RA, Friedman PA, Souney PF, Rayment CM, Meyer TW, Skorecki KL: Factors effecting potassium balance during furosemide administration. Clin Sci 1984;67:195-203.
37. Gesek FA, Friedman PA: Mechanism of calcium transport stimulated by chlorothiazide in mouse distal convoluted tubule cells. J Clin Invest 1992;90:429-438.
38. Okusa MD, Velazquez H, Ellison DH, Wright FS: Luminal calcium regulates potassium transport by the renal distal tubule. Am J Physiol 1990;258:F423-F428.
39. +-ATPase gamma-subunit. Nature Genetics 2000;26:265-266.
40. Ellison DH: Divalent cation transport by the distal nephron: Insights from Bartter's and Gitelman's syndromes. Am J Physiol 2000;279:F616-F625.
41. 2+ resorption. Science 1999;285:103-106.
42. Ring T, Knoers N, Oh MS, Halperin ML: Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. Pediatr Nephrol 2002;17:612-616.
43. Loffing J, Loffing-Cueni D, Hegyi I, Kaplan MR, Hebert SC, Le Hir M, Kaissling B: Thiazide treatment of rats provokes apoptosis in distal tubule cells. Kidney Int 1996;50:1180-1190.
44. 3 and PTH. Am J Physiol 1991;261:F799-F807
45. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB: Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life. Kidney Int 2001;59:710-717.
46. +-ATPase activity by cyclosporin-A. Kidney Int 1993;43:246-251.
47. + channels in rabbit cortical collecting tubule principal cells. Kidney Int 1993;44:974-984.
48. Bantle JP, Nath KA, Sutherland DER, Najarian JS, Ferris TF: Effects of cyclosporine on the renin-angiotensin-aldosterone system and potassium excretion in renal transplant recipients. Arch Intern Med 1985;145:505-508.
49. Curtis JJ, Luke RG, Jones P, Diethelm AG: Hypertension in cyclosporine-treated renal transplant patients is sodium dependent. Am J Med 1988;85:134-138.
50. + secretionn. Nature 2001;414:558-561.