Bartter syndrome: an overview.

The term Bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis. The patch-clamp technique has made possible the analysis of single ion channels, improving our understanding of the molecular physiopathology of all the 'Bartter-like' syndromes. Genetic mapping of each defect has further clarified the mutations involved and the possible modes of inheritance. This improved understanding has opened new avenues for therapy, improving mortality and morbidity in these patients. Another group of illnesses, the 'pseudo-Bartter syndrome', may produce a hypokalaemic metabolic alkalosis without primary renal disease. The underlying illness needs to be identified and treated.

[1]  L. Dai,et al.  beta-Adrenergic agonists stimulate Mg(2+) uptake in mouse distal convoluted tubule cells. , 2000, American journal of physiology. Renal physiology.

[2]  D. Warnock,et al.  Genetic disorders of renal electrolyte transport. , 1999, The New England journal of medicine.

[3]  M. Konrad,et al.  Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. , 1999, Pediatrics.

[4]  Jordan J. Cohen,et al.  Molecular pathogenesis of Bartter's and Gitelman's syndromes. , 1998, Kidney international.

[5]  J. Rodríguez-soriano Bartter and related syndromes: the puzzle is almost solved , 1998, Pediatric Nephrology.

[6]  H. Devlieger,et al.  Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms , 1998, Pediatric Nephrology.

[7]  G. Quamme Renal magnesium handling: new insights in understanding old problems. , 1997, Kidney international.

[8]  T. Mansfield,et al.  Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III , 1997, Nature Genetics.

[9]  W. Proesmans Bartter syndrome and its neonatal variant , 1997, European Journal of Pediatrics.

[10]  L. Guay-Woodford,et al.  Bartter syndrome in Costa Rica: a description of 20 cases , 1997, Pediatric Nephrology.

[11]  P. A. Friedman,et al.  Cellular mechanisms of chlorothiazide and cellular potassium depletion on Mg2+ uptake in mouse distal convoluted tubule cells. , 1997, Kidney international.

[12]  T. Jentsch,et al.  Chloride channels: An emerging molecular picture , 1997, BioEssays : news and reviews in molecular, cellular and developmental biology.

[13]  S. Yamashita,et al.  Cloning and functional expression of a novel isoform of ROMK inwardly rectifying ATP‐dependent K+ channel, ROMK6 (Kir1.1 f) , 1996 .

[14]  E. Hodson,et al.  Neonatal Bartter syndrome – use of indomethacin in the newborn period and prevention of growth failure , 1996, Pediatric Nephrology.

[15]  A. Ballabio,et al.  Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. , 1996, American Journal of Human Genetics.

[16]  R. Lifton,et al.  Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK , 1996, Nature Genetics.

[17]  H. Seyberth,et al.  Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. , 1996, The Journal of pediatrics.

[18]  R. Graham,et al.  Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred. , 1996, Journal of the American Society of Nephrology : JASN.

[19]  E. Delpire,et al.  The Na-(K)-Cl cotransporter family in the mammalian kidney: molecular identification and function(s). , 1996, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[20]  F. Marumo,et al.  Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization. , 1996, Genomics.

[21]  McCredie Da Variants of Bartter's syndrome. , 1996 .

[22]  F. Raafat,et al.  A case of neonatal Bartter’s syndrome , 1996, Pediatric Nephrology.

[23]  R. Lifton,et al.  Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2 , 1996, Nature Genetics.

[24]  G. Giebisch,et al.  Potassium transport: from clearance to channels and pumps. , 1996, Kidney international.

[25]  S. Gullans,et al.  Localization of the thiazide sensitive Na-Cl cotransporter, rTSC1 in the rat kidney. , 1996, Kidney international.

[26]  R. Carmi,et al.  Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. , 1995, American journal of medical genetics.

[27]  S. Fisher,et al.  Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). , 1995, Genomics.

[28]  H. Moseley,et al.  Anaesthetic management of a child with Bartter’s syndrome , 1995, Canadian journal of anaesthesia = Journal canadien d'anesthesie.

[29]  J. A. Payne,et al.  Primary Structure, Functional Expression, and Chromosomal Localization of the Bumetanide-sensitive Na-K-Cl Cotransporter in Human Colon (*) , 1995, The Journal of Biological Chemistry.

[30]  R. Carmi,et al.  Prenatal diagnosis of bartter syndrome , 1994, Prenatal diagnosis.

[31]  G. Quamme,et al.  Renal magnesium handling and its hormonal control. , 1994, Physiological reviews.

[32]  F. Marumo,et al.  Molecular cloning of a chloride channel that is regulated by dehydration and expressed predominantly in kidney medulla. , 1993, The Journal of biological chemistry.

[33]  C. Guyot,et al.  [Antenatal form of Bartter's syndrome]. , 1993, Annales de pediatrie.

[34]  H. Seyberth,et al.  Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. , 1992, The Journal of pediatrics.

[35]  A. Doucet Function and control of Na-K-ATPase in single nephron segments of the mammalian kidney. , 1988, Kidney international.

[36]  Costanzo Ls Mechanism of action of thiazide diuretics. , 1988 .

[37]  H. Devlieger,et al.  Electrolyte composition of the amniotic fluid in Bartter syndrome. , 1987, European journal of obstetrics, gynecology, and reproductive biology.

[38]  G. Verhoef,et al.  Correction of hypokalemia in Bartter's syndrome by enalapril. , 1987, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[39]  K. Schärer,et al.  Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. , 1985, The Journal of pediatrics.

[40]  J. Stein,et al.  The pathogenetic spectrum of Bartter's syndrome. , 1985, Kidney international.

[41]  A. Ohlsson,et al.  A Variant of Bartter's Syndrome , 1984, Acta paediatrica Scandinavica.

[42]  R. Stahl,et al.  Mechanism of furosemide-induced natriuresis by direct stimulation of renal prostaglandin E2. , 1984, The American journal of physiology.

[43]  A. Ohlsson,et al.  Fetal Polyuria and Hydramnios Associated with Bartter's Syndrome , 1984, Obstetrics and gynecology.

[44]  M. Burg,et al.  Sodium transport in the rabbit connecting tubule. , 1982, The American journal of physiology.

[45]  R. Kempson,et al.  Surreptitious diuretic ingestion and pseudo-Bartter's syndrome. , 1982, The American journal of medicine.

[46]  T. Hasaart,et al.  Hydramnios and Observations in Bartter's Syndrome , 1982, Acta obstetricia et gynecologica Scandinavica.

[47]  A. Amery,et al.  Bartter's syndrome with hyperplasia of renomedullary cells: successful treatment with indomethacin. , 1976, Kidney international.

[48]  N. Kurtzman,et al.  The pathophysiology of Bartter syndrome. , 1975, JAMA.

[49]  N. Holland,et al.  Bartter syndrome. Typical facies and normal plasma volume. , 1975 .

[50]  A. Williams,et al.  HYPERCALCIURIA IN POTASSIUM‐LOSING NEPHROPATHY: , 1974, Australian paediatric journal.

[51]  C. Chaimovitz,et al.  Studies on the Site of Renal Salt Loss in a Patient with Bartter's Syndrome , 1973, Pediatric Research.

[52]  L. Welt,et al.  A FAMILIAL DISORDER CHARACTERIZED BY HYPOKALEMIA AND HYPOMAGNESEMIA * , 1969, Annals of the New York Academy of Sciences.

[53]  A. Williamon,et al.  Observations , 1966, Performing Music Research.

[54]  J. Gill,et al.  Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. , 1962, The American journal of medicine.

[55]  R. Mehrotra,et al.  Hypokalemic metabolic alkalosis with hypomagnesuric hypermagnesemia and severe hypocalciuria: a new syndrome? , 1997, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[56]  A. Ziegler,et al.  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, Human molecular genetics.

[57]  E. Delpire,et al.  Molecular mechanisms of NaCl cotransport. , 1996, Annual review of physiology.

[58]  R. Lifton,et al.  Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter , 1996, Nature Genetics.

[59]  J. Casez,et al.  Evidence for disturbed regulation of calciotropic hormone metabolism in gitelman syndrome. , 1995, The Journal of clinical endocrinology and metabolism.

[60]  M. Metta,et al.  Renal tubular function in children and adolescents with Gitelnian's syndrome, the hypocalciuric variant of Bartter's syndrome , 1995 .

[61]  G. Colussi,et al.  Calcium metabolism and calciotropic hormone levels in Gitelman's syndrome. , 1994, Mineral and electrolyte metabolism.

[62]  G. Colussi,et al.  Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome. , 1994, American journal of nephrology.

[63]  F. Lang,et al.  Potassium channels in renal epithelial transport regulation. , 1992, Physiological reviews.

[64]  Gerhard Giebisch,et al.  The Kidney: Physiology and Pathophysiology , 1992 .

[65]  R. Sutton,et al.  Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. , 1992, Mineral and electrolyte metabolism.

[66]  A. Vallo,et al.  Familial hypokalemia-hypomagnesemia or Gitelman's syndrome: a further case. , 1992, Nephron.

[67]  Proesmans Wc [The neonatal form of Bartter's syndrome: current findings in etiology and physiopathology]. , 1992 .

[68]  G. Colussi,et al.  Pseudo-Bartter's syndrome from surreptitious diuretic intake: differential diagnosis with true Bartter's syndrome. , 1992, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[69]  A. Rudin Bartter's syndrome. A review of 28 patients followed for 10 years. , 1988, Acta medica Scandinavica.

[70]  L. Costanzo Mechanism of action of thiazide diuretics. , 1988, Seminars in nephrology.

[71]  J. Aumont,et al.  Urinary prostaglandins in Bartter's and pseudo-Bartter's syndrome. , 1985, Uremia investigation.

[72]  M. Mitchell,et al.  The role of prostaglandins in Bartter's syndrome. , 1984, The International journal of pediatric nephrology.

[73]  L. Welt,et al.  A new familial disorder characterized by hypokalemia and hypomagnesemia. , 1966, Transactions of the Association of American Physicians.

[74]  B. Lamberg,et al.  Effect of chlorothiazide and hydrochlorothiazide on the excretion of calcium in urine. , 1959, Scandinavian journal of clinical and laboratory investigation.