Abnormal reabsorption of Na+/Cl− by the thiazide-lnhibitable transporter of the distal convoluted tubule in gitelman’s syndrome

American Journal of Nephrology

Volumn 17, Issue 2, 1997, Pages 103-111

  Colussi, Giacomo ^a   Rombolà, Giuseppe ^a   Brunati, Chiara ^a   De Ferrari, Maria Elisabetta ^a  

^a OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

Furosemide; Gitelman s syndrome; Hydrochlorothiazide; Hypokalemia; Hypomagnesemia; Na+ Cl electroneutral symporter; Thiazides

Indexed keywords

CHLORIDE ION; FUROSEMIDE; HYDROCHLOROTHIAZIDE; LOOP DIURETIC AGENT; SODIUM ION; THIAZIDE DIURETIC AGENT;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GITELMAN SYNDROME; HENLE LOOP; HUMAN; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; KIDNEY DISTAL TUBULE; MALE; METABOLIC ALKALOSIS; PRIORITY JOURNAL; SODIUM ABSORPTION;

ADOLESCENT; ADULT; BARTTER SYNDROME; CARRIER PROTEINS; CASE-CONTROL STUDIES; DIURETICS; FEMALE; FUROSEMIDE; HUMANS; HYDROCHLOROTHIAZIDE; HYPOKALEMIA; KIDNEY TUBULES, DISTAL; LOOP OF HENLE; MAGNESIUM; MALE; MEMBRANE PROTEINS; MIDDLE AGED; RECEPTORS, DRUG; SODIUM CHLORIDE; SODIUM CHLORIDE SYMPORTER INHIBITORS; SODIUM CHLORIDE SYMPORTERS; SODIUM-POTASSIUM-CHLORIDE SYMPORTERS; SYMPORTERS; SYNDROME;

EID: 0030975973     PISSN: 02508095     EISSN: 14219670     Source Type: Journal    
DOI: 10.1159/000169082     Document Type: Article

References (32)

1. Gitclman HJ, Graham JB, Welt LG: A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966.79:221-223.
2. Rodrigucz-Soriano J, Vallo A, Garcia-Fuentes M: Hypomagnesaemia of hereditary renal origin. Pediatr Nephrol 1987;1:465-472.
3. Puschctt JB, Greenberg A, Mitro R, Piraino B, Wallia R: Variant of Bartter's syndrome with a distal tubular rather than loop of Henlc defect. Nephron 1988:50:205-211.
4. Sutton RAL, Mavichak V, Halabe A, Wilkins GE: Bartter’s syndrome: Evidence suggesting a distal tubular defect in a hvpocalciuric variant of the syndrome. Miner Electrolyte Metab 1992:18:43-51.
5. Zarraga Larrondo S, Vallo A. Gainza J, Muniz R, Garcia Erauzkin G. Lampreabc I: Familial hypokalemia-hypomagncscmia or Gilelman's syndrome: A further case. Nephron 1992:62: 340-344.
6. Bettinelli A, Bianchetti MG, Girardin E, Ca-ringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G, Marche-soni C, Matteucci C, Patriarca P, Di Natalc B, Setzu C: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitclman syndromes. J Pediatr 1992:120:38-43.
7. Gitclman HJ: Hypokalemia, hypomagnesemia, and alkalosis: A rose is a rose, or is it? J Pediatr 1992;120:79-80.
8. Tsukamoto T, Kobayashi T, Kawamoto K, Fu-kase M, Chihara K: Possible discrimination of Gitelman's syndrome from Bartter’s syndrome by clearance study: Report of two cases. Am J Kidney Dis 1995:25:637-641.
9. Gamba G, Miyanoshita A, Lombardi M. Lyt-ton J. Lee WS. Hcdiger MA. Hebert SC: Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family in kidney. J Biol Chem 1994;269:17713-17722.
10. Simon DB, Nclson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushncr HM, Koolen M, Gainza FJ, Gitclman HJ, Lifton RP: Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-CI cotransporter. Nat Genet 1996:12:24-30.
11. Colussi G, Rombolà G, Verde G, Airaghi C, Loli P, Minetti L: Distal nephron function in Bartter’s syndrome: Abnormal conductance to chloride in the cortical collecting tubule? Am J Nephrol 1992:12:229-239.
12. Colussi G, Rombolà G, De Ferrari ME, Maca-luso M, Minetti L: Correction of hypokalemia with antialdosterone therapy in Gitelman’s syndrome. Am J Nephrol 1994;14:127-135.
13. Colussi G, Macaiuso M, Brunali C, Minctti L: Calcium metabolism and calciotropic hormone levels in Gitelman’s syndrome. Miner Electrolyte Metab 1994:20:294-301.
14. Colussi G, Rombolà G, Airaghi C. De Ferrari ME. Minetti L: Pseudo-Bartter’s syndrome from surreptitious diuretic intake: Differential diagnosis with true Bartter's syndrome. Nephrol Dial Transplant 1992:7:896-901.
15. Rombolà G, Colussi G, De Ferrari ME, Surian M, Malberti F, Minetti L: Clinical evaluation of segmental tubular rcabsorption of sodium and fluid in man: Lithium vs free water clearances. Nephrol Dial Transplant 1987:2:212-218.
16. Colussi G, Rombolà G, Surian M, De Ferrari ME, Airaghi C, Bcnazzi E, Malberti F, Minetti L: Lithium clearance in humans: Effects of acute administration of acctazolamide and fu-roscmide. Kidney Ini 1990;37(suppl 28):63-66.
17. Narins RG, Jones ER, Stom MC, Rudnick MR. Basti CP: Diagnostic strategies in disorders of fluid, electrolyte and acid-base homeostasis. Am J Med 1982:72:496-520.
18. Colussi G, Rombolà G, Surian M, De Ferrari ME, Airaghi C, Bcnazzi E, Malberti F, Minetti L: Effects of acute administration of acetazol-amide and furoscmidc on lithium clearance in humans. Nephrol Dial Transplant 1989;4:707-712.
19. Ethier JH, Kamel KS, Magncr PO, Lemann J, Halpcrin M: The transtubular potassium concentration in patients with hypokalemia and hvpcrkalemia. Am J Kidney Dis 1990; 15:309-315.
20. Danovitch GM: Clearance methodology in the study of the function of the distal tubule. Renal Physiol 1978;1:56-60.
21. Odlin B: Relationship between tubular secretion of furoscmidc and its saluretic effect. J Pharmacol ExpThcr 1979:208:515-521.
22. Kessler RII, Kierholzer K, Gurd RS: Localization of action of chlorothiazide in the nephron of the dog. Am J Physiol 1959:46:1346-1350.
23. Boer P, Hené RJ, Koomans HA, Nieuwenhuis MG, Gcyskes GG, Dorhout Mccs EJ: Blood and extracellular fluid volume in patients with Bartter’s syndrome. Arch Intern Med 1983; 143:1902-1905.
24. Bartter FC, Provonc P, Gill JR, MacCardle RC: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am J Med 1962;33:811-828.
25. Silverberg AB, Mennes PA, Crycr PE: Resistance to endogenous norepinephrine in Bartter’s syndrome: Reversion during indomctha-cin administration. Am J Med 1978:64:231-235.
26. Weinstein AM: Sodium and chloride transport: Proximal nephron: in Scldin DV, Gicbisch G (eds):The Kidney: Physiology and Pathophysiology, ed2. New York. Raven Press, 1992, pp 1925-1973.
27. Zoccali C, Bartoli E, Maggiore Q: The renal tubular defect of Bartter’s syndrome. Nephron 1982:32:140-148.
28. Uribarri J, Alvcranga D, Oh MS, Kukar NM, Del Monte ML, Carrol HJ: Bartter's syndrome due to the defect in salt reabsorption in the distal convoluted tubule. Nephron 1985:40:52-56.
29. Ellison DH, Biemesderfer D, Morissey J, Laur-ing J, Desir GV: Immunocytochcmical characterization of the high-affinity thiazide diuretic receptor in rabbit renal cortex. Am J Physiol 1993;264:F141-F148.
30. Gamba G, Saltzberg SN, Lombardi M, Miyanoshita A, Lvtton J, Hcdiger MA, Brenner BM, Hebert SC: Primary structure and functional expression of a cDNA encoding the thiazide-sensitive. electroncutral sodium-chioridc cotransporter. Proc Natl Acad Sci USA 1993:90: 2749-2753.
31. Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G: Molecular cloning, expression pattern and chromosomal localization of the human Na-CI thiazide-sensitive cotransporter. Nat Genet, in press.
32. Bettinelli A, Bianchetti MG, Borella P, Volpini E, Metta MG, Basilico E, Selicomi A, Bargel-lini A, Grassi MR: Genetic heterogeneity in renal tubular hypokalemia alkalosis with magnesium deficiency and hypocalciuria (Gitelman's syndrome). Kidney Int 1995:47:547-551.