메뉴 건너뛰기




Volumn 76, Issue 5, 1998, Pages 317-325

The molecular genetic approach to 'Bartter's syndrome'

Author keywords

Antenatal Bartter's syndrome; Bartter's syndrome; CLCNKB; Gitelman's syndrome; Hyperprostaglandin E syndrome; KCNJ1; SLC12A1; SLC12A3

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; BARTTER SYNDROME; CHLORIDE TRANSPORT; GENE MUTATION; GENETIC HETEROGENEITY; GITELMAN SYNDROME; HUMAN; HYPERALDOSTERONISM; HYPERRENINEMIA; HYPOKALEMIA; METABOLIC ALKALOSIS; MOLECULAR GENETICS; REVIEW;

EID: 0031972145     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001090050223     Document Type: Review
Times cited : (42)

References (71)
  • 1
    • 50849151835 scopus 로고
    • Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome
    • Bartler FC, Pronove P, Gill JR Jr, MacCardle RC (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33:811-828
    • (1962) Am J Med , vol.33 , pp. 811-828
    • Bartler, F.C.1    Pronove, P.2    Gill Jr., J.R.3    MacCardle, R.C.4
  • 2
    • 0013976561 scopus 로고
    • A new familial disorder characterized by hypokalemia and hypomagnesemia
    • Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys 79:221-235
    • (1966) Trans Assoc Am Phys , vol.79 , pp. 221-235
    • Gitelman, H.J.1    Graham, J.B.2    Welt, L.G.3
  • 3
    • 0015069866 scopus 로고
    • Chronic hypokalaemia with growth retardation, normotensive hyperrenin-hyperaldosteronism ("Bartter's syndrome"), and hypercalciuria. Report of two cases with emphasis on natural history and on catch-up growth during treatment
    • Fanconi A, Schachenmann G, Nüssli R, Prader A (1971) Chronic hypokalaemia with growth retardation, normotensive hyperrenin-hyperaldosteronism ("Bartter's syndrome"), and hypercalciuria. Report of two cases with emphasis on natural history and on catch-up growth during treatment. Helv Paed Acta 2:144-163
    • (1971) Helv Paed Acta , vol.2 , pp. 144-163
    • Fanconi, A.1    Schachenmann, G.2    Nüssli, R.3    Prader, A.4
  • 4
    • 0022251369 scopus 로고
    • Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter syndrome
    • Seyberth HW, Rascher W, Schweer H, Kühl PG, Mehls O, Schärer K (1985) Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. J Pediatr 107:694-701
    • (1985) J Pediatr , vol.107 , pp. 694-701
    • Seyberth, H.W.1    Rascher, W.2    Schweer, H.3    Kühl, P.G.4    Mehls, O.5    Schärer, K.6
  • 5
    • 0029051359 scopus 로고
    • Bartter's syndrome: The unsolved puzzle
    • Clive DM (1995) Bartter's syndrome: the unsolved puzzle. Am J Kidney Dis 25:813-823
    • (1995) Am J Kidney Dis , vol.25 , pp. 813-823
    • Clive, D.M.1
  • 6
    • 0030029814 scopus 로고    scopus 로고
    • Bartter syndrome revisited
    • Schwartz ID, Alon US (1996) Bartter syndrome revisited. J Nephrol 9:81-87
    • (1996) J Nephrol , vol.9 , pp. 81-87
    • Schwartz, I.D.1    Alon, U.S.2
  • 7
    • 0002660675 scopus 로고    scopus 로고
    • Hypokalaemic tubular disorders: The hyperprostaglandin E syndrome and Gitelman-Bartter syndrome
    • Davison AM, Cameron JS. Grünfeld JP, Kerr DN, Ritz E (eds) Oxford University Press, Oxford
    • Seyberth HW, Soergel M, Köckerling A (1997) Hypokalaemic tubular disorders: the hyperprostaglandin E syndrome and Gitelman-Bartter syndrome. In: Davison AM, Cameron JS. Grünfeld JP, Kerr DN, Ritz E (eds) Oxford textbook of clinical nephrology, 2 edn. Oxford University Press, Oxford, pp 1045-1094
    • (1997) Oxford Textbook of Clinical Nephrology, 2 Edn. , pp. 1045-1094
    • Seyberth, H.W.1    Soergel, M.2    Köckerling, A.3
  • 10
    • 0021809162 scopus 로고
    • The pathogenetic spectrum of Bartter's syndrome
    • Stein JH (1985) The pathogenetic spectrum of Bartter's syndrome. Kidney Int 28:85-93
    • (1985) Kidney Int , vol.28 , pp. 85-93
    • Stein, J.H.1
  • 12
    • 0023765041 scopus 로고
    • Bartter's syndrome
    • Rudin A (1988) Bartter's syndrome. Acta Med Scand 224: 165-171
    • (1988) Acta Med Scand , vol.224 , pp. 165-171
    • Rudin, A.1
  • 17
    • 0026536173 scopus 로고
    • Calcium homeostasis and hypercalciuria in hyperprostaglandin e syndrome
    • Leonhardt A, Timmermanns G, Roth B, Seyberth HW (1992) Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. J Pediatr 120:546-554
    • (1992) J Pediatr , vol.120 , pp. 546-554
    • Leonhardt, A.1    Timmermanns, G.2    Roth, B.3    Seyberth, H.W.4
  • 19
    • 84993911692 scopus 로고
    • Hypercalciuria in potassium-losing nephropathy: A variant of Bartter's syndrome
    • McCredie DA, Rotenberg E, Williams AL (1974) Hypercalciuria in potassium-losing nephropathy: a variant of Bartter's syndrome. Aust Paediatr J 10:286-295
    • (1974) Aust Paediatr J , vol.10 , pp. 286-295
    • McCredie, D.A.1    Rotenberg, E.2    Williams, A.L.3
  • 20
    • 0023588270 scopus 로고
    • Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders
    • Seyberth HW, Königer SJ, Rascher W, Gonne Kühl P, Schweer H (1987) Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. Pediatr Nephrol 1:491-497
    • (1987) Pediatr Nephrol , vol.1 , pp. 491-497
    • Seyberth, H.W.1    Königer, S.J.2    Rascher, W.3    Gonne Kühl, P.4    Schweer, H.5
  • 25
    • 0028787681 scopus 로고
    • Infantile variant of Bartter syndrome and sensorineutal deafness: A new autosomal recessive disorder
    • Landau D, Shalev H, Ohaly M, Carmi R (1995) Infantile variant of Bartter syndrome and sensorineutal deafness: a new autosomal recessive disorder. Am J Med Genet 59:454-459
    • (1995) Am J Med Genet , vol.59 , pp. 454-459
    • Landau, D.1    Shalev, H.2    Ohaly, M.3    Carmi, R.4
  • 26
    • 0022971409 scopus 로고
    • Renal tubular reabsorption of chloride in Bartter's syndrome and other conditions with hypokalemia
    • Rodriguez Portales JA, Delea CS (1986) Renal tubular reabsorption of chloride in Bartter's syndrome and other conditions with hypokalemia. Clin Nephrol 26:269-272
    • (1986) Clin Nephrol , vol.26 , pp. 269-272
    • Rodriguez Portales, J.A.1    Delea, C.S.2
  • 27
    • 0018232460 scopus 로고
    • Evidence for a prostaglandin-independent defect in chloride reabsortion in the loop of Henle as a proximal cause of Bartter's syndrome
    • Gill JR Jr, Bartter FC (1978) Evidence for a prostaglandin-independent defect in chloride reabsortion in the loop of Henle as a proximal cause of Bartter's syndrome. Am J Med 65:766-772
    • (1978) Am J Med , vol.65 , pp. 766-772
    • Gill Jr., J.R.1    Bartter, F.C.2
  • 28
    • 0028301822 scopus 로고
    • Discrepancy between lithium and free water clearance in patients with Bartter's syndrome
    • Boer WH, Hené RJ, Koomans HA, Dorhout Mees EJ (1994) Discrepancy between lithium and free water clearance in patients with Bartter's syndrome. Nephron 67:82-87
    • (1994) Nephron , vol.67 , pp. 82-87
    • Boer, W.H.1    Hené, R.J.2    Koomans, H.A.3    Dorhout Mees, E.J.4
  • 30
    • 84940140364 scopus 로고
    • Distal nephron function in Bartter's syndrome: Abnormal conductance to chloride in the cortical collecting tubule?
    • Colussi G, Rombolà G, Verde G, Airaghi C, Loli P, Minetti L (1992) Distal nephron function in Bartter's syndrome: abnormal conductance to chloride in the cortical collecting tubule? Am J Nephrol 12:229-239
    • (1992) Am J Nephrol , vol.12 , pp. 229-239
    • Colussi, G.1    Rombolà, G.2    Verde, G.3    Airaghi, C.4    Loli, P.5    Minetti, L.6
  • 31
    • 0028360729 scopus 로고
    • Two highly homologous members of the ClC chloride channel family in both rat and human kidney
    • Kieferle S, Fong P, Bens M, Vandewalle A, Jentsch TJ (1994) 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) Proc Natl Acad Sci USA , vol.91 , pp. 6943-6947
    • Kieferle, S.1    Fong, P.2    Bens, M.3    Vandewalle, A.4    Jentsch, T.J.5
  • 32
    • 0028201013 scopus 로고
    • Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney
    • Gamba G, Miyanoshita A, Lombardi M, Lytton J, Lee WS, Hediger MA, Hebert SC (1994) 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) J Biol Chem , vol.269 , pp. 17713-17722
    • Gamba, G.1    Miyanoshita, A.2    Lombardi, M.3    Lytton, J.4    Lee, W.S.5    Hediger, M.A.6    Hebert, S.C.7
  • 33
    • 0017134973 scopus 로고
    • Bartter's syndrome: A disorder characterized by high urinary prostaglandins and a dependence of hyperreninemia on prostaglandin synthesis
    • Gill JR Jr, Frölich JC, Bowden RE, Taylor AA, Keiser HR, Seyberth HW, Oates JA, Bartter FC (1976) 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) Am J Med , vol.61 , pp. 43-51
    • Gill Jr., J.R.1    Frölich, J.C.2    Bowden, R.E.3    Taylor, A.A.4    Keiser, H.R.5    Seyberth, H.W.6    Oates, J.A.7    Bartter, F.C.8
  • 34
    • 0019495809 scopus 로고
    • Prostaglandins and Bartter's syndrome
    • Dunn MJ (1981) Prostaglandins and Bartter's syndrome. Kidney Int 19:86-102
    • (1981) Kidney Int , vol.19 , pp. 86-102
    • Dunn, M.J.1
  • 35
    • 0018656916 scopus 로고
    • 2 on chloride transport across the rabbit thick ascending limb of Henle
    • 2 on chloride transport across the rabbit thick ascending limb of Henle. J Clin Invest 64:495-502
    • (1979) J Clin Invest , vol.64 , pp. 495-502
    • Stokes, J.B.1
  • 36
    • 0019831571 scopus 로고
    • Role of prostaglandins in the regulation of renal water excretion
    • Kramer HJ, Glänzer K, Düsing R (1981) Role of prostaglandins in the regulation of renal water excretion. Kidney Int 19:851-859
    • (1981) Kidney Int , vol.19 , pp. 851-859
    • Kramer, H.J.1    Glänzer, K.2    Düsing, R.3
  • 38
    • 0026482217 scopus 로고
    • Bartter's syndrome: Evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome
    • Sutton RAL, Mavichak V, Halabe A, Wilkins GE (1992) Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 18:43-51
    • (1992) Miner Electrolyte Metab , vol.18 , pp. 43-51
    • Sutton, R.A.L.1    Mavichak, V.2    Halabe, A.3    Wilkins, G.E.4
  • 39
    • 0023680022 scopus 로고
    • Variant of Bartter's syndrome with a distal tubular rather than loop of Henle defect
    • Puschett JB, Greenberg A, Mitro R, Piraino B, Wallia R (1988) Variant of Bartter's syndrome with a distal tubular rather than loop of Henle defect. Nephron 50:205-211
    • (1988) Nephron , vol.50 , pp. 205-211
    • Puschett, J.B.1    Greenberg, A.2    Mitro, R.3    Piraino, B.4    Wallia, R.5
  • 42
    • 0030218857 scopus 로고    scopus 로고
    • Molecular cloning, expression pattern and chromsomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3)
    • Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Betinelli A, Ballabio A, Casari G (1996) Molecular cloning, expression pattern and chromsomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics 35:486-493
    • (1996) Genomics , vol.35 , pp. 486-493
    • Mastroianni, N.1    De Fusco, M.2    Zollo, M.3    Arrigo, G.4    Zuffardi, O.5    Betinelli, A.6    Ballabio, A.7    Casari, G.8
  • 45
    • 0030410932 scopus 로고    scopus 로고
    • Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred
    • Pollak MR, Delaney VB, Graham RM, Hebert SC (1996) 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) J Am Soc Nephrol , vol.7 , pp. 2244-2248
    • Pollak, M.R.1    Delaney, V.B.2    Graham, R.M.3    Hebert, S.C.4
  • 48
    • 0030032699 scopus 로고    scopus 로고
    • Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
    • Simon DB, Karet FE, Hamdan JM, Di Pietro A, Sanjad SA, Lifton RP (1996) Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13:183-188
    • (1996) Nat Genet , vol.13 , pp. 183-188
    • Simon, D.B.1    Karet, F.E.2    Hamdan, J.M.3    Di Pietro, A.4    Sanjad, S.A.5    Lifton, R.P.6
  • 49
    • 0026011281 scopus 로고
    • Diuretics
    • Rose BD (1991) Diuretics. Kidney Int 39:336-352
    • (1991) Kidney Int , vol.39 , pp. 336-352
    • Rose, B.D.1
  • 50
    • 0019968092 scopus 로고
    • Renal calcifications: A complication of long-term furosemide therapy in preterm infants
    • Hufnagle KG, Khan SN, Penn D, Cacciarelli A, Williams P (1982) Renal calcifications: a complication of long-term furosemide therapy in preterm infants. Pediatrics 70:360-363
    • (1982) Pediatrics , vol.70 , pp. 360-363
    • Hufnagle, K.G.1    Khan, S.N.2    Penn, D.3    Cacciarelli, A.4    Williams, P.5
  • 51
    • 0028296720 scopus 로고
    • Alternatively spliced isoforms of the putative renal Na-K-Cl cotransporter are differentially distributed within the rabbit kidney
    • Payne JA, Forbush B (1994) 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) Proc Natl Acad Sci USA , vol.91 , pp. 4544-4548
    • Payne, J.A.1    Forbush, B.2
  • 52
    • 0028833225 scopus 로고
    • Cloning, embryonic expression, and alternative splicing of a murine kidney-specific Na-K-Cl cotransporter
    • Igarashi P, Vanden Heuvel GB, Payne JA, Forbush B (1995) Cloning, embryonic expression, and alternative splicing of a murine kidney-specific Na-K-Cl cotransporter. Am J Physiol 269:F405-418
    • (1995) Am J Physiol , vol.269
    • Igarashi, P.1    Vanden Heuvel, G.B.2    Payne, J.A.3    Forbush, B.4
  • 54
    • 8044222737 scopus 로고    scopus 로고
    • Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity
    • International Collaborative Study Group for Bartter-like Syndromes (1997) Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 6:17-26
    • (1997) Hum Mol Genet , vol.6 , pp. 17-26
  • 55
    • 0030357628 scopus 로고    scopus 로고
    • Impaired response to furosemide in Hyperprostaglandin E syndrome: Evidence for a tubular defect in the loop of Henle
    • Köckerling A, Reinalter S, Seyberth H (1996) Impaired response to furosemide in Hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. J Pediatr 129: 519-528
    • (1996) J Pediatr , vol.129 , pp. 519-528
    • Köckerling, A.1    Reinalter, S.2    Seyberth, H.3
  • 56
    • 0029970059 scopus 로고    scopus 로고
    • Potassium transport: From clearance to channels and pumps
    • Giebisch G, Wang W (1996) Potassium transport: from clearance to channels and pumps. Kidney Int 49:1624-1631
    • (1996) Kidney Int , vol.49 , pp. 1624-1631
    • Giebisch, G.1    Wang, W.2
  • 60
    • 0028869511 scopus 로고
    • + channel. I. Expression in rat distal nephron segments
    • + channel. I. Expression in rat distal nephron segments. Am J Physiol 268:F1124-F1131
    • (1995) Am J Physiol , vol.268
    • Lee, W.S.1    Hebert, S.C.2
  • 62
    • 0029048951 scopus 로고
    • Isolation and chroinsomal localization of a human ATP-regulated potassium channel
    • Krishnan SN, Desai T, Ward DC, Haddad GG (1995) Isolation and chroinsomal localization of a human ATP-regulated potassium channel. Hum Genet 96:155-160
    • (1995) Hum Genet , vol.96 , pp. 155-160
    • Krishnan, S.N.1    Desai, T.2    Ward, D.C.3    Haddad, G.G.4
  • 63
    • 0029589905 scopus 로고
    • Three distinct structural environments of a transmembrane domain in the inwardly rectifying potassium channel ROMK1 defined by pertubation
    • Choe S, Stevens CF, Sullivan JM (1995) Three distinct structural environments of a transmembrane domain in the inwardly rectifying potassium channel ROMK1 defined by pertubation. Proc Natl Acad Sci USA 92:12046-12049
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 12046-12049
    • Choe, S.1    Stevens, C.F.2    Sullivan, J.M.3
  • 65
    • 0028137409 scopus 로고
    • + channel in thick ascending limb of rat kidney
    • + channel in thick ascending limb of rat kidney. Am J Physiol 267:F599-605
    • (1994) Am J Physiol , vol.267
    • Wang, W.H.1
  • 68
    • 0029589606 scopus 로고
    • ClC-6 and ClC-7 are two novel broadly expressed members of the ClC chloride channel family
    • Brandt S, Jentsch TJ (1995) ClC-6 and ClC-7 are two novel broadly expressed members of the ClC chloride channel family. FEBS Lett 377:15-20
    • (1995) FEBS Lett , vol.377 , pp. 15-20
    • Brandt, S.1    Jentsch, T.J.2
  • 69
    • 0030249306 scopus 로고    scopus 로고
    • Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization
    • Saito-Ohara F, Uchida S, Takeuchi Y, Sasaki S, Hayashi A, Marumo F, Ikeuchi T (1996) Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization. Genomics 36:372-374
    • (1996) Genomics , vol.36 , pp. 372-374
    • Saito-Ohara, F.1    Uchida, S.2    Takeuchi, Y.3    Sasaki, S.4    Hayashi, A.5    Marumo, F.6    Ikeuchi, T.7
  • 70
    • 0028292022 scopus 로고
    • Two isoforms of a chloride channel predominantly expressed in thick ascending limb of Henle's loop and collecting ducts of rat kidney
    • Adachi S, Uchida S, Ito H, Hata M, Hiroe M, Marumo F, Sasaki S (1994) Two isoforms of a chloride channel predominantly expressed in thick ascending limb of Henle's loop and collecting ducts of rat kidney. J Biol Chem 269: 17677-17683
    • (1994) J Biol Chem , vol.269 , pp. 17677-17683
    • Adachi, S.1    Uchida, S.2    Ito, H.3    Hata, M.4    Hiroe, M.5    Marumo, F.6    Sasaki, S.7
  • 71
    • 0029962816 scopus 로고    scopus 로고
    • DNA chips: Analysing sequence by hybridization to oligonucleotides on a large scale
    • Southern EM (1996) DNA chips: analysing sequence by hybridization to oligonucleotides on a large scale. Trends Genet 12:110-115
    • (1996) Trends Genet , vol.12 , pp. 110-115
    • Southern, E.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.