Molecular pathogenesis of Bartter's and Gitelman's syndromes

Kidney International

Volumn 54, Issue 4, 1998, Pages 1396-1410

  Kurtz, Ira ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Hyperprostaglandin E syndrome; Hypocalciuria; Hypokalemia; Hypomagnesemia; Metabolic alkalosis; Nephrocalcinosis

Indexed keywords

ALDOSTERONE; CALCIUM; POTASSIUM;

ADULT; ALDOSTERONE BLOOD LEVEL; BARTTER SYNDROME; BLOOD PRESSURE; CALCIUM EXCRETION; CASE REPORT; CHLORIDE TRANSPORT; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DIFFERENTIAL DIAGNOSIS; GITELMAN SYNDROME; HUMAN; HYPOKALEMIA; HYPOMAGNESEMIA; LABORATORY DIAGNOSIS; MALE; METABOLIC ALKALOSIS; PATHOGENESIS; PLASMA RENIN ACTIVITY; POTASSIUM TRANSPORT; PRIORITY JOURNAL; REVIEW;

EID: 0031681211     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.1998.00124.x     Document Type: Article

References (150)

1. STEIN JH: Nephrology Forum: The pathogenetic spectrum of Bartter's syndrome. Kidney Int 28:85-93, 1985
2. GITELMAN HJ, GRAHAM JB, WELT LG: A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys 79:221-235,
3. GITELMAN HJ, GRAHAM JB, WELT LG: A familial disorder characterized by hypokalemia and hypomagnesemia. Ann NY Acad Sci 162:856-864, 1969
4. BARTTER FC, PRONOVE P, GILL JRJ, MACARDLE RC: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkafosis. Am J Med 33:811-828, 1962
5. ROSENBAUM P, HUGHES M: Persistent, probably congenital hypokalemic metabolic alkalosis with hyaline degeneration of the renal tubules and normal urinary aldosterone. Am J Dis Child 94:560, 1957
6. MCCREDIE DA, ROTENBERG E, WILLIAMS AL: Hypercalciuria in potassium-losing nephropathy: a variant of Bartter's syndrome. Aust Pediatr J 10:286-295, 1974
7. GLADZIWA U, SCHWARZ R, GITTER AH, BIJMAN J, SEYBERTH H, BECK F, RITZ E, GROSS P: Chronic hypokalaemia of adults: Gitelman's syndrome is frequent but classical Bartter's syndrome is rare. Nephrol Dial Transplant 10:1607-1613, 1995
8. HOUSER M, ZIMMERMAN B, DAVIDMAN M, SMITH C, SINAIKO A, FISH A: Idiopathic hypercalciuria associated with hyperreninemia and high urinary prostaglandin E. Kidney Int 26:176-182, 1984
9. URIBARRI J, ALVERANGA D, OH MS, KUKAR NM, DEL MONTE ML, CARROLL HJ: Bartter's syndrome due to a defect in salt reabsorption in the distal convoluted tubule. Nephron 40:52-56, 1985
10. COLUSSI G, MACALUSO M, BRUNATI C, MINETTI L: Calcium metabolism and calciotropic hormone levels in Gitelman's syndrome. Miner Electrolyte Metab 20:294-301, 1994
11. RUDIN A, SJOGREN B, AURELL M: Low urinary calcium excretion in Bartter's syndrome (letter). N Engl J Med 310:1190, 1984
12. RUDIN A, AURELL M, WILSKE J: Low urinary calcium excretion in Bartter's syndrome. Scand J Urol Nephrol 22:35-39, 1988
13. SUTTON RA, MAVICHAK V, HALABE A, WILKINS GE: Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 18:43-51, 1992
14. BETTINELLI A, BIANCHETTI MG, GIRARDIN E, ET AL: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120:38-43, 1992
15. MACKIE FE, HODSON EM, ROY LP, KNIGHT JF: Neonatal Bartter syndrome-use of indomethacin in the newborn period and prevention of growth failure. Pediatr Nephrol 10:756-758, 1996
16. PROESMANS W, DEVLIEGER H, VAN ASSCHE A, EGGERMONT E, VANDENBERGHE K, LEMMENS F, SIEPRATH P, LIJNEN P: Bartter syndrome in two siblings-antenatal and neonatal observations. Int J Pediatr Nephrol 6:63-70, 1985
17. 2 syndrome? Pediatr Nephrol 8:407, 1994
18. WILLIAMS MP, JONES CL, JOHNSTONE LM, WALKER RG, MCCREDIE DA, POWELL HR: An extreme example of the neonatal form of Bartter's syndrome. Pediatr Nephrol 10:496-497, 1996
19. WONG W, HULTON SA, TAYLOR CM, RAAFAT F, LOTE CJ, LINDOP G: A case of neonatal Bartter's syndrome. Pediatr Nephrol 10:414-418, 1996
20. PROESMANS WC: The neonatal form of Bartter's syndrome: current findings in etiology and physiopathology. Verh K Acad Geneeskd Belg 54:253-293, 1992
21. DESCHENES G, BURGUET A, GUYOT C, HUBERT P, GARABEDIAN M, DECHAUX M, LOIRAT C, BROYER M: Antenatal form of Bartter's syndrome. Ann Pediatr 40:95-101, 1993
22. SIECK UV, OHLSSON A: Fetal polyuria and hydramnios associated with Bartter's syndrome. Obstet Gynecol 63:22S-24S, 1984
23. JAMES T, HOLLAND NH, PRESTON D: Bartter syndrome. Typical facies and normal plasma volume. Am J Dis Child 129:1205-1207, 1975
24. OHLSON A, SIECK U, CUMMING W, AKHTAR M, SERENIUS F: A variant of Bartter's syndrome. Acta Pediatr Scand 73:868-874, 1984
25. LANDAU D, SHALEV H, OHALY M, CARMI R: Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 59:454-459, 1995
26. MASSA G, PROESMANS W, DEVLIEGER H, VANDENBERGHE K, VAN ASSCHE A, EGGERMONT E: Electrolyte composition of the amniotic fluid in Bartter syndrome. Eur J Obstet Gynecol Reprod Biol 24:335-340, 1987
27. SHALEV H, OHALY M, MEIZNER I, CARMI R: Prenatal diagnosis of Bartter syndrome. Prenat Diagn 14:996-998, 1994
28. SEYBERTH HW, RASCHER W, SCHWEER H, KUHL PG, MEHLS O, SCHARER K: Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr 107:694-701, 1985
29. SEYBERTH HW, KONIGER SJ, RASCHER W, KUHL PG, SCHWEER H: Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. Pediatr Nephrol 1:491-497, 1987
30. FICHMAN MP, TELFER N, ZIA P, SPECKART P, GOLUB M, RUDE R: Role of prostaglandins in the pathogenesis of Bartter's syndrome. Am J Med 60:785-797, 1976
31. BARTTER FC, GILL JR JR, FROLICH JC, BOWDEN RE, HOLLIFIELD JW, RADFAR N, KEISER HR, OATES JA, SEYBERTH H, TAYLOR AA: Prostaglandins are overproduced by the kidneys and mediate hyperreninemia in Bartter's syndrome. Trans Assoc Am Physicians 89:77-91, 1976
32. NORBY L, FLAMENBAUM W, LENTZ R, RAMWELL P: Prostaglandins and aspirin therapy in Bartter's syndrome. Lancet 2:604-606, 1976
33. DUNN MJ: Nephrology Forum: Prostaglandins and Bartter's syndrome. Kidney Int 19:86-102, 1981
34. SEIDEL C, REINALTER S, SEYBERTH HW, SCHARER K: Pre-pubertal growth in the hyperprostaglandin E syndrome. Pediatr Nephrol 9:723-728, 1995
35. POMERANZ A, KORZETS Z, DOLFIN Z, ELIAKIM A, BERNHEIM WOLACH B: Acute renal failure in the neonate induced by the administration of indomethacin as a tocolytic agent. Nephrol Dial Transplant 11:1139-1141, 1996
36. CABROL D, JANNET D, PANNIER E: Treatment of symptomatic polyhydramnios with indomethacin. Eur J Obstet Gynecol 66:11-15, 1996
37. MCCREDIE DA: Variants of Bartter's syndrome. Pediatr Nephrol 10:419-421, 1996
38. GITELMAN HG: Hypokalemia, hypomagnesemia, and alkalosis: a rose is a rose-or is it? J Pediatr 120:79-80, 1992
39. MCCREDIE DA: Distinguishing between Bartter's syndrome and Gitelman's syndrome. Pediatr Nephrol 9:402, 1995
40. BAUER FM, GLASSON P, VALLOTTON MB, COURVOISIER B: Bartter's syndrome, chondrocalcinosis and hypomagnesemia. Schweiz Med Wochenschr 109:1251-1256, 1979
41. RESNICK D, RAUSCH JM: Hypomagnesemia with chondrocalcinosis. J Can Assoc Radiologists 35:214-216, 1984
42. SALVARANI C, ROSSI F, MACCHIONI PL, BARRICHI R, CAPPOZOLI N, CASTELLANI S, GHIRRELLI L, VENEZIANI M, SCARTI L, PORTIOLI I: Bartter's syndrome and chondrocalcinosis: a possible role for hypomagnesemia in the deposition of calcium pyrophosphate dihydrate (CPPD) crystals. Clin Exp Rheumatol 7:415-420, 1989
43. DE HEIDE LJ, BIRKENHAGER JC: Bartter's syndrome, hypomagnesaemia and chondrocalcinosis. Neth J Med 39:148-152, 1991
44. SMILDE TJ, HAVERMAN JF, SCHIPPER P, HERMUS ARMM, VAN LEIBERGEN FJHM, JANSEN JLJ, KLOPPENBORG PWC, KOOLEN MI: Familial hypokalemia/hypomagnesemia and chondrocalcinosis. J Rheumatol 21:1515-1519, 1994
45. FANCONI A, SCHACHENMANN G, NUSSLI RAP: Chronic hypokalemia with growth retardation, normotensive hyperrenin-hyperaldosteronism ("Bartter's syndrome") and hypercalciuria. Helv Paediatr Acta 26:144-163, 1971
46. DELANEY VB, OLIVER JF, SIMMS M, COSTELLO J, BOURKE E: Bartter's syndrome: physiological and pharmacological studies. Q J Med 50:213-232, 1981
47. RESTREPO DE ROVETTO C, WELCH TR, HUG G, CLARK KE, BERGSTROM W: Hypercalciuria with Bartter syndrome: evidence for an abnormality of vitamin D metabolism. J Pediatr 115:397-404, 1989
48. GILL JR JR. FROLICH JC, BOWDEN RE, TAYLOR AA, KEISER HR, SEYBERTH WH, OATES JA, BARTIER FC: Bartter's syndrome: a disorder characterized by high urinary prostaglandins and a dependence of hyperreninemia on prostaglandin synthesis. Am J Med 61:43-51, 1976
49. 3 synthesis in rats. Biochem J 216:237-240, 1983
50. 3 in chick renal tubules. Prostaglandins 27:453-463, 1984
51. 3-1-alpha-hydroxylase activity in isolated kidney cells of normal and streptozotocin-induced diabetic rats. Calcif Tissue Int 37:625-1985
52. BROUHARD BH: Prostaglandins and hypokalemia. J Pediatr 107:738-740, 1985
53. CALO L, CANTARO S, PICCOLI A, FAVARO S, BONFANTE L, BORSATTI A: Full pattern of urinary prostaglandins in Bartter's syndrome. Nephron 56:451-452, 1990
54. CHAN JC, GILL JR JR, BARTTER FC: Lack of evidence for a role for prostaglandins in the mediation of impaired urinary concentrating ability in Bartter's syndrome. Nephron 35:116-119, 1983
55. HORNYCH A, KRIEF C, AUMONT J: Urinary prostaglandins in Bartter's and pseudo-Bartter's syndrome. Uremia Invest 9:203-210, 1985
56. WINTEBORN MH, HEWITT GJ, MITCHELL MD: The role of prostaglandins in Bartter's syndrome. Int J Pediatr Nephrol 5:31-38, 1984
57. 2 in Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Am J Kidney Dis 25:824-828, 1995
58. BARBOUR GL, DAY JO: Asymptomatic Bartter's syndrome. South Med J 71:1341-1344, 1978
59. ZIPSER RD, RUDE RK, ZIA PK, FICHMAN MP: Regulation of urinary prostaglandins in Bartter's syndrome. Am J Med 67:263-267, 1979
60. DILLON MJ, SHAH V, MITCHELI MD: Bartter's syndrome: 10 cases in childhood. Results of long-term indomethacin therapy. Q J Med 191:429-446, 1979
61. CARMINE Z, ETTORE B, GIUSEPPE C, QUIRINO M: The renal tubular defect of Bartter's syndrome. Nephron 32:140-148, 1982
62. 2, frusemide and acetylsalicylic acid. Clin Sci 61:53-59, 1981
63. 2. Am J Physiol 247:F555-F561, 1984
64. ZUSMAN RM, SNIDER JJ, CLINE A, CALDWELL BV, SPEROFF L: Antihypertensive function of renal-cell carcinoma. Evidence for a prostaglandin-A-secreting tumor. N Engl J Med 290:843-845, 1974
65. GILL JR, BARTTER FC: Evidence of prostaglandin-independent defect in chloride reabsorption in the loop of Henle as a proximal cause of Bartter's syndrome. Am J Med 65:766-772, 1978
66. GILL JR JR: The role of chloride transport in the thick ascending limb in the pathogenesis of Bartter's syndrome. Klin Wochenschr 60:1212-1214, 1982
67. PUSCHETT JB, GREENBERG A, MITRO R, PIRAINO B, WALLIA R: Variant of Bartter's syndrome with a distal tubular rather than loop of Henle defect. Nephron 50:205-211, 1988
68. ZARRADA LARRONDO S, VALLO A, GAINZA J, MUNIZ R, GARCIA ERAUZKIN G, LAMPREABE I: Familial hypokalemia-hypomagnesemia or Gitelman's syndrome: a further case. Nephron 62:340-344, 1992
69. TSUKAMOIO T, KOBAYASHI T, KAWAMOTO K, FUKASE M, CHIHARA K: Possible discrimination of Gitelman's syndrome from Bartter's syndrome by renal clearance study: report of two cases. Am J Kidney Dis 25:637-641, 1995
70. KOCKERLING A, REINALTER SC, SEYBERTH HW: Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr 129:519-528, 1996
71. PETERS N, BETTINELLI A, SPICHER I, BASILICO E, METTA MG, BIANCHETTI MG: Renal tubular function in children and adolescents with Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Nephrol Dial Transplant 10:1313-1319, 1995
72. STOKES JB: Electroneutral NaCl transport in the distal tubule. Kidney Int 36:427-433, 1989
73. GESEK FA, FRIEDMAN PA: On the mechanism of parathyroid hormone stimulation of calcium uptake by mouse distal convoluted tubule cells. J Clin Invest 90:749-758, 1992
74. GAMBA G, SALTZBERG SN, LOMBARDI M, MIYANOSHITA A, LYTTON J, HEDIGER MA, BRENNER BM, HEBERT SC: Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter. Proc Natl Acad Sci USA 90:2749-2753, 1993
75. GAMBA G, MIYANOSHITA A, LOMBARDI M, LYTTON J, LEE WS, HEDIGER MA, HEBERT SC: Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem 269:17713-17722, 1994
76. BACHMANN S, VILAZQUEZ H, REILLY R, MOSER D, ELLISON D: Expression of the thiazide-sensitive cotransporter by rabbit distal convoluted tubule cells. J Clin Invest 96:2510-2514, 1995
77. OBERMULLER N, BERNSTEIN P, VELASQUEZ H, REILLY R, MOSER D, ELLISON DH, BACHMANN S: Expression of the thiazide-sensitive Na-Cl cotransporter in rat and human kidney. Am J Physiol 269: F900-F910, 1995
78. PLOTKIN MD, KAPLAN MR, VERLANDER JW, LEE WS, BROWN D, POCH L, GUILLANS SR, HEBERT SC: Localization of the thiazide-sensitive Na-Cl cotransporter, rTSC1, in the rat kidney. Kidney Int 50:174-183, 1996
79. BARRY EL, GESEK FA, KAPLAN MR, HEBERT SC, FRIEDMAN PA: Expression of the sodium-chloride cotransporter in osteoblast-like cells: effect of thiazide diuretics. Am J Physiol 272:C109-C116, 1997
80. ABULADZE N, YANAGAWA N, LEE I, JO OD, NEWMAN D, HWANG J, UYEMURA K, PUSHKIN A, MODLIN RL, KURTZ I: Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal NaCl cotransport. J Am Soc Nephrol 9:819-826, 1998
81. LAMBERG B-A, KUHLBACK B: Effect of chlorothiazide and hydrochlorothiazide on the excretion of calcium in the urine. Scand J Lab Invest 11:351-371, 1959
82. COSTANZO LS: Mechanism of action of thiazide diuretics. Semin Nephrol 8:234-241, 1988
83. GESEK FA, FRIEDMAN PA: Mechanism of calcium transport stimulated by chlorothiazide in mouse distal convoluted tubule cells. J Clin Invest 90:429-438, 1992
84. 2+ exchange in distal convoluted tubule cells. Am J Physiol 271:F560-F570, 1996
85. SIMON DB, NELSON-WILLIAMS C, BIA MJ, ELLISON D, KARET FE, MOLINA AM, VAARA I, IWATA F, CUSHNER HM, KOOLEN M, GAINZA FJ, GITELMAN JH, LIFTON RP: Gitelman's variant of Bartter's syndrome; inherited hypokalaemia is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24-30, 1996
86. SIMON DB, KARET FE, HAMDEN JM, DIPIETRO A, SANJAD SA, LIFTON RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-Cl cotransporter NKCC2. Nat Genet 13:183-188, 1996
87. SIMON DB, KARET FE, RODRIGUEZ-SORIANO J, HAMDAN JH, DIPIETRO A, TRACHTMAN H, SANJAD SA, LIFTON RP: Genetic heterogeneity of Bartter's syndrome revealed by mutations in the channel, ROMK. Nat Genet 14:152-156, 1996
88. POLLAK MR, DELANEY VB, GRAHAM RM, HEBERt SC: Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred. J Am Soc Nephrol 7:2244-2248, 1996
89. KAROLYI L, ZIEGLER A, POLLAK M, FISCHDACH M, GRZESCHIK KH, KOCH MC, SEYBERT HW: Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome. Pediatr Nephrol 10:551-554, 1996
90. LEMMINK HH, VAN DEN HEUVEL LP, VAN DIJK HA, MERKX GF, SMILDE TJ, TASCHNER PE, MONNENS LA, HEBERT SC, KNOERS NV: Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. Pediatr Nephrol 10:403-407, 1996
91. CHANG H, TASHIRO K, HIRAI M, IKEDA K, KUROKAWA K, FUJITA T: Identification of a cDNA encoding a thiazide-sensitive sodium-chloride cotransporter from the human and its mRNA expression in various tissues. Biochem Biophys Res Commun 223:324-328, 1996
92. MASTROIANNI N, BETTINELLI A, BIANCHETTI M, COLUSSI G, DE FUSCO M, SERENI F, BALLABIO A, CASARI G: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59:1019-1026, 1996
93. RUDIN A: Bartter's syndrome. A review of 28 patients followed for 10 years. Acta Medico Scand 224:165-171, 1988
94. MUNOZ-FERNANDEZ S, PANTOJA L, MARTIN MOLA E, DE MIGUEL E, GIJON BANOS J: Chondrocalcinosis associated with Bartter's syndrome and hypomagnesemia. J Rheumatol 21:1782-1783, 1994
95. CHENG PT, PRITZKER KP, ADAMS ME, NYBURG SC, OMAR SA: Calcium pyrophosphate crystal formation in aqueous solutions. J Rheumatol 7:609-616, 1980
96. HUGHES AE, MCGIBBON D, WOODWARD E, DIXEY J, DOHERTY Localisation of a gene for chondrocalcinosis to chromosome 5p. Hum Mol Genet 4:1225-1228, 1995
97. ROCHA AS, KOKKO JP: Sodium chloride and water transport in the medullary thick ascending limb of Henle. J Clin Invest 52:612-623, 1973
98. BURG MB, GREEN N: Function of the thick ascending limb of Henle's loop. Am J Physiol 224:659-668, 1973
99. - cotransport and the thick ascending limb. Kidney Int 36:418-426, 1989
100. KAPLAN MR, MOUNT DB, DELPIRE E, GAMBA G, HEBERT SC: Molecular mechanisms of NaCl cotransport. Annu Rev Physiol 58:649-668, 1996
101. PAYNE JA, FORBUSH B III: Alternatively spliced isoforms of the putative renal Na-K-Cl cotransporter are differentially distributed within the rabbit kidney. Proc Natl Acad Sci USA 91:4544-4548, 1994
102. YANG T, HUANG YG, SINGH I, SCHNERMANN J, BRIGGS JP: Localization of bumetanide- and thiazide-sensitive Na-K-Cl cotransporters along the rat nephron. Am J Physiol 271:F931-F939, 1996
103. KAPLAN MR, PLOTKIN MD, LEE W-S, XU Z-C, LYTTON J, HEBERT SC: Apical localization of the Na-K-Cl cotransporter, rBSCl, on rat thick ascending limbs. Kidney Int 49:40-47, 1996
104. XU JC, LYTLE C, ZHU TT, PAYNE JA, BENZ E, FORBUSH B III: Molecular cloning and functional expression of the bumetanide-sensitive Na-K-Cl cotransporter. Proc Natl Acad Sci USA 91:2201-2205, 1994
105. PAYNE JA, XU JC, HAAS M, LYTLE CY, WARD D, FORBUSH B III: Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon. J Biol Chem 270:17977-17985, 1995
106. IGARASHI P, VANDEN HEUVEL GB, PAYNE JA, FORBUSH B III: Cloning, embryonic expression, and alternative splicing of a murine kidney-specific Na-K-Cl cotransporter. Am J Physiol 269:F405-F418, 1995
107. GILLEN CM, BRILL SB, PAYNE JA, FORBUSH B III: Molecular cloning and functional expression of the K-Cl cotransporter from rabbit, rat, and human. J Biol Chem 271:16237-16244, 1996
108. SASAKI S, ISHIBASHI K, YOSHIYAMA N, SHIGAI T: KCl co-transport across the basolateral membrane of rabbit renal proximal straight tubules. J Clin Invest 81:194-199, 1988
109. GREGER R, SCHLATTER E: Properties of the basolateral membrane of the cortical thick ascending limb of Henle's loop of rabbit kidney. Pflügers Arch 396:325-334, 1983
110. + channels: structure and function. Annu Rev Physiol 59:413-436, 1997
111. HO K, NICHOLS CG, LEDERER WJ, LYTTON J, VASSILEV PM, KANAZIRSKA MV, HEBERT SC: Cloning and expression of an inward rectifying ATP-regulated potassium channel. Nature 362:31-38, 1993
112. + channel, ROMK6 (Kirl.lf). FEBS Lett 399:122-126, 1996
113. SHUCK ME, BOCK JH, BENJAMIN CW, TSAI TD, LEE KS, SLIGHTON JL, BIENKOWSKI MJ: Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel. J Biol Chem 269:24261-24270, 1994
114. HEDERT SC: An ATP-regulated, inwardly rectifying potassium channel from rat kidney (ROMK). Kidney Int 48:1010-1016, 1995
115. + channel. I. Expression in rat distal nephron segments. Am J Physiol 268:F1124-F1131, 1995
116. + channel. II. Cloning and distribution of alternative forms. Am J Physiol 268:F1132-F1140, 1995
117. + channel function. Biochem Biophys Res Commun 230:641-645, 1997
118. + channel (ROMK2) to the inhibitory sulfonylurea compound, glibenclamide, is enhanced by co-expression with the ATP-binding cassette transporter CFTR. Proc Natl Acad Sci USA 93:8083-8088, 1996
119. REEVES WB, WINTERS CJ, ZIMNIAK L, ANDREOLI TE: Epithelial chloride channels, from kidney to airway cells. Adv Nephrol 23:177-190, 1994
120. JENTSCH TJ, GÜNTHER W: Chloride channels: an emerging molecular picture. Bioessays 19:117-126, 1997
121. JENTSCH TJ, STEINMEYER K, SCHWARZ G: Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes. Nature 348:510-514, 1990
122. UCHIDA S, SASAKI S, FURUKAWA T, HIROAOKA M, IMAI T, HIRATA T, MARUMO F: Molecular cloning of a chloride channel that is regulated by dehydration and expressed predominantly in kidney medulla. J Biol Chem 268:3821-3824, 1993
123. KIEFERLE S, FONG P, BENS M, VANDEWALLE A, JENTSCH TJ: Two highly homologous members of the CLC chloride channel family in both rat and human kidney. Proc Natl Acad Sci USA 91:6943-6947, 1994
124. TAKEUCHI Y, UCHIDA S, MARUMO F, SASAKI S: Cloning, tissue distribution, and intrarenal localization of CLC chloride channels in human kidney. Kidney Int 48:1497-1503, 1995
125. VANDEWALLE A, CLUZEAUD F, BENS M, KIEFERLE S, STEINMEYER K, JENTSCH TJ: Localization and induction by dehydration of ClC-K chloride channels in the rat kidney. Am J Physiol 272:F67S-F688, 1997
126. INTERNATIONAL COLLABORATIVE STUDY GROUP: Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter's syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. Hum Mol Genet 6:17-26, 1997
127. ATP channel blocker on renal tubule function and K channel activity. J Pharmacol Exp Ther 273:1382-1389, 1995
128. SIMON DB, BINDRA RS, MANSFIELD TA, NELSON-WILLIAM C, MENDONCA E, STONE R, SCHURMAN S, NAYIR A, ALPAY H, BAKKALOGLU A, RODRIGUEZ-SORIANO J, MORALES JM, SANJAD SA, TAYLOR CM, PILZ D, BREM A, TRACHTMAN, GRISWOLD W, RICHARD GA, JOHN E, LIFTON RP: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171-178, 1997
129. LLOYD SE, PEARCE SH, FISHER SE, STEINMEYER K, SCHWAPPACH B, SCHEINMAN SJ, HARDING B, BOLINO A, DEVOTO M, GOODYER P, RIGDEN SP, WRONG O, JENTSCH TJ, CRAIG IW, THAKKER RV: A common basis for three inherited kidney stone diseases. Nature 379:445-449, 1996
130. RUNEBERG L, COLLAN Y, JOKINEN EJ, LAHDEVIRTA J, ARO A: Hypomagnesemia due to renal disease of unknown etiology. Am J Med 59:873-881, 1975
131. GÜLLNER H-G, GILL JR JR, BARTTER FC, CHAN JCM, DICKMAN PS: A familial disorder with hypokalemic alkalosis, hyperreninemia, aldosteronism, high urinary prostaglandins and normal blood pressure that is not "Bartter's syndrome." Trans Assoc Am Physicians 90:175-188, 1979
132. GÜLLNER H-G, GILL JR JR, BARTTER FC: Correction of hypokalemia by magnesium repletion in familial hypokalemic alkalosis with tubulopathy. Am J Med 71:578-582, 1981
133. MEHROTRA R, NOLPH KD, KATHURIA P, DOTSON L: Hypokalemic metabolic alkalosis with hypomagnesuric hypermagnesemia and severe hypocalciuria: a new syndrome? Am J Kidney Dis 29:106-114, 1997
134. MORIOKA A, IWASHIRO M, MATSUBAYASHI Y, TERAMURA Y, KURIBAYASHI K: Effects of non-MHC background genes on the induction of CD4+ T cells that prevent rejection of a highly immunogenic tumor, FB1-3. Int Immunol 6:839-846, 1994
135. RATKAY LG, TAIT B, TONZETICH J, WATERFIELD JD: Lpr and MRL gene involvement in the control of adjuvant enhanced arthritis in MRL-1pr mice. J Autoimmunol 7:561-573, 1994
136. VUKUSIC B, POPLONSKI L, PHILLIPS L, PAULING J, DELOVITCH T, HOZUMI N, WITHER J: Both MHC and background gene heterozygosity alter T cell receptor repertoire in an antigen-specific response. Mol Immunol 32:1355-1367, 1995
137. KUNCHAPARTY S, ALI N, BERNSTEIN PL, DESIR GV, ELLISON DH: A carboxyterminal mutation of mouse thiazide-sensitive Na-Cl cotransporter abolishes function (abstract). J Am Soc Nyphrol 7:1284, 1996
138. KAJI DM, CHASE HS JR, ENG JP, DIAZ J: Prostaglandin E2 inhibits Na-K-2Cl cotransport in medullary thick ascending limb cells. Am J Physiol 271:C354-C361, 1996
139. + channel, ROMK1. Am J Physiol 271:F588-F594, 1996
140. OZCAN T, KALELI B, OZEREN M, TURAN C, ZORLU G: Urinary calcium to creatinine ratio for predicting preeclampsia. Am J Perinatol 12:349-351, 1995
141. TOLAYAMAT A, SANCHEZ-RAMOS L, YERGLEY AL, VIEIRA NE, ABRAMS SA, EDELSTEIN P: Pathophysiology of hypocalciuria in preeclampsia: measurement of intestinal calcium absorption. Obstet Gynecol 83:239-243, 1994
142. BOURGES H, HALHALI A: Hypothesis to explain the association between hypocalciuria and low circulating 1,25-dihydroxyvitamin D in preeclampsia. Med Hypotheses 41:239-243, 1993
143. SEALY JE, ITSKOVITZ-ELDOR J, RUBATTU S, JAMES JD, AUGUST P, THALER I, LEVRON J, LARAGH JH: Estradiol-and progesterone-related increases in the renin-aldosterone system: studies during ovarian stimulation and early pregnancy. J Clin Endocrinol Metab 79:259-264, 1994
144. STOTE RM, SMITH LH, WISON DM, DUBE WJ, GOLDSMITH RS, ARNAUD CD: Hydrochlorothiazide effects on serum calcium and immunoreactive parathyroid hormone concentrations. Ann Intern Med 77:587-591, 1972
145. COE FL, CANTERBURY JM, FIRPO JJ, REISS E: Evidence for secondary hyperparathyroidism in idiopathic hypercalciuria. J Clin Invest 52:134-142, 1973
146. STEIN MS, SCHERER SC, WALTON SL, GILBERT RE, EBELING PR, FLICKER L, WARK JD: Risk factors for secondary hyperparathyroidism in a nursing home population. Clin Endocrinol 44:375-383, 1996
147. DE ROUFFIGNAC C, MANDON B, WITTNER M, DI STEFANO A: Hormonal control of renal magnesium handling. Miner Electrolyte Metab 19:226-231, 1993
148. SUTTON RA, DOMRONGKITCHAIPORN S: Abnormal renal magnesium handling. Miner Electrolyte Metab 19:232-240, 1993
149. KEATING MJ, SETHI MR, BODEY GP, SAMAAN NA: Hypocalcemia with hypoparathyroidism and renal tubular dysfunction associated with aminoglycoside therapy. Cancer 39:1410-1414, 1977
150. + channels in the rat TAL. Am J Physiol 273:F421-F429, 1997