bartter syndrome

Summary

Summary: A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.

Top Publications

  1. Amirlak I, Dawson K. Bartter syndrome: an overview. QJM. 2000;93:207-15 pubmed
    The term Bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis...
  2. Vaisbich M, Fujimura M, Koch V. Bartter syndrome: benefits and side effects of long-term treatment. Pediatr Nephrol. 2004;19:858-63 pubmed
    The present study reports clinical and laboratory data of patients with Bartter syndrome at diagnosis and follow-up with emphasis on the long-term benefits and side effects of the pharmacological therapy, which includes indomethacin and ..
  3. Rodriguez Soriano J, Vallo A, Pérez de Nanclares G, Bilbao J, Castano L. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Pediatr Nephrol. 2005;20:891-6 pubmed
    The term "Bartter syndrome" encompasses a group of closely related inherited tubulopathies characterized by markedly reduced NaCl transport by the distal nephron...
  4. Hayama A, Rai T, Sasaki S, Uchida S. Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. Histochem Cell Biol. 2003;119:485-93 pubmed
    Barttin, a gene product of BSND, was identified as a fourth gene responsible for Bartter syndrome. The co-expression of barttin with CLC-K chloride channels has been demonstrated to dramatically induce the expression of CLC-K current...
  5. Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, et al. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int. 2003;63:24-32 pubmed
    Gitelman syndrome (GS) and Bartter syndrome (BS) are hereditary hypokalemic tubulopathies with distinct phenotypic features...
  6. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet. 2002;360:692-4 pubmed
    ..We therefore suggest that some activating mutations of CASR could provide new mechanisms for the development of Bartter's syndrome...
  7. Watanabe T, Tajima T. Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III. Pediatr Nephrol. 2005;20:676-8 pubmed
    ..Although chronic hypokalemia is the main clinical feature of Bartter syndrome, renal cyst formation in this disease has never been reported...
  8. Akil I, Ozen S, Kandiloglu A, Ersoy B. A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. Clin Exp Nephrol. 2010;14:278-82 pubmed publisher
    b>Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. A 10-year-old boy had severe growth retardation (height standard deviation score -8.15)...
  9. Kitanaka S, Sato U, Maruyama K, Igarashi T. A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. Pediatr Nephrol. 2006;21:190-3 pubmed
    b>Bartter syndrome is a genetic disorder with hypokalemic metabolic alkalosis and is classified into five types...

More Information

Publications62

  1. Bhat Y, Vinayaka G, Vani R, Prashanth K, Sreelakshmi K. Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios. Ann Trop Paediatr. 2011;31:153-7 pubmed publisher
    ..analysis of amniotic fluid detected a very high level of chloride (582 mmol/L), which led to the diagnosis of Bartter syndrome. With serial amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks...
  2. Ozlu F, Yapicioglu H, Satar M, Narli N, Ozcan K, Buyukcelik M, et al. Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. Pediatr Nephrol. 2006;21:1056-7 pubmed
  3. Crinnion W, Tran J. Case report: heavy metal burden presenting as Bartter syndrome. Altern Med Rev. 2010;15:303-10 pubmed
    Maternal transfer of heavy metals during fetal development or lactation possibly contributed to the clinical manifestations of Bartter syndrome and developmental delay in the offspring.
  4. Cruz D, Shaer A, Bia M, Lifton R, Simon D. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int. 2001;59:710-7 pubmed
    ..This is the first systematic evaluation of a large group of patients with genetically defined GS...
  5. Jeck N, Reinalter S, Henne T, Marg W, Mallmann R, Pasel K, et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics. 2001;108:E5 pubmed
    ..To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31...
  6. Derst C, Konrad M, Köckerling A, Karolyi L, Deschenes G, Daut J, et al. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem Biophys Res Commun. 1997;230:641-5 pubmed
    Children with the antenatal variant of Bartter syndrome present the typical pattern of impaired salt reabsorption in the thick ascending limb of Henle's loop (TALH) resulting in marked ante- and postnatal salt wasting...
  7. Nozu K, Inagaki T, Fu X, Nozu Y, Kaito H, Kanda K, et al. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008;45:182-6 pubmed publisher
    b>Bartter syndrome (BS) is a genetic disorder accompanied by hypokalaemic metabolic alkalosis...
  8. Simon D, Karet F, Rodriguez Soriano J, Hamdan J, DiPietro A, Trachtman H, et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet. 1996;14:152-6 pubmed
    ..Our findings establish the genetic heterogeneity of Bartter's syndrome, and demonstrate the physiologic role of ROMK in vivo...
  9. Krämer B, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol. 2008;4:38-46 pubmed
    ..A severe salt-losing tubulopathy (Bartter syndrome type III) develops if ClCKB is nonfunctional, whereas a common genetic variant of the CLCNKB gene that leads ..
  10. Bell D. Successful utilization of aliskiren, a direct renin inhibitor in Bartter syndrome. South Med J. 2009;102:413-5 pubmed publisher
    b>Bartter syndrome is traditionally treated with large doses of oral potassium with or without suppression of the renin-angiotensin system...
  11. Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia G, Emma F. Type IV Bartter syndrome: report of two new cases. Pediatr Nephrol. 2006;21:766-70 pubmed
    b>Bartter syndrome with sensorineural deafness (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in the BSND gene...
  12. Birkenhäger R, Otto E, Schürmann M, Vollmer M, Ruf E, Maier Lutz I, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001;29:310-4 pubmed
    Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies...
  13. Malafronte C, Borsa N, Tedeschi S, Syren M, Stucchi S, Bianchetti M, et al. Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease. Pediatr Nephrol. 2004;19:1413-5 pubmed
    ..5 mmol/l. The importance of beginning early medical treatment, to improve plasma potassium levels and reverse cardiac abnormalities, is emphasized...
  14. Pennesi M, Marchetti F, Crovella S, Boaretto F, Travan L, Lazzerini M, et al. A new mutation in two siblings with cystinosis presenting with Bartter syndrome. Pediatr Nephrol. 2005;20:217-9 pubmed
    ..Only five cases of cystinosis with associated Bartter syndrome are reported in the literature, and no genetic evaluation has been reported...
  15. Riazuddin S, Anwar S, Fischer M, Ahmed Z, Khan S, Janssen A, et al. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet. 2009;85:273-80 pubmed publisher
    ..To date, all mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness. We identified a BSND mutation (p...
  16. Yalcin E, Kiper N, Dogru D, Ozcelik U, Aslan A. Clinical features and treatment approaches in cystic fibrosis with pseudo-Bartter syndrome. Ann Trop Paediatr. 2005;25:119-24 pubmed
    Infants with cystic fibrosis (CF) are prone to develop episodes of hyponatraemic, hypochloraemic dehydration with metabolic alkalosis, which are biochemical hallmarks of the pseudo-Bartter syndrome (PB).
  17. Waldegger S, Jentsch T. Functional and structural analysis of ClC-K chloride channels involved in renal disease. J Biol Chem. 2000;275:24527-33 pubmed
    ..Insertion of point mutations associated with Bartter's syndrome type III destroyed channel activity. We conclude that ClC-K proteins form constitutively open chloride channels with distinct physiological characteristics...
  18. Starremans P, Kersten F, Knoers N, van den Heuvel L, Bindels R. Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol. 2003;14:1419-26 pubmed
    b>Bartter syndrome (BS) is a heterogeneous renal tubular disorder affecting Na-K-Cl reabsorption in the thick ascending limb of Henle's loop. BS type I patients typically present with profound hypokalemia and metabolic alkalosis...
  19. Robitaille P, Tousignant K, Dubois J. Bartter syndrome and cholelithiasis in an infant: is this a mere coincidence?. Eur J Pediatr. 2008;167:109-10 pubmed
  20. Nüsing R, Reinalter S, Peters M, Kömhoff M, Seyberth H. Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: therapeutic use of the cyclooxygenase-2 inhibitor nimesulide. Clin Pharmacol Ther. 2001;70:384-90 pubmed
    Patients with hyperprostaglandin E syndrome/antenatal Bartter syndrome typically have renal salt wasting, hypercalciuria with nephrocalcinosis, and secondary hyperaldosteronism...
  21. Scognamiglio R, Negut C, Calò L. Aborted sudden cardiac death in two patients with Bartter's/Gitelman's syndromes. Clin Nephrol. 2007;67:193-7 pubmed
    ..The identification and recognition of other possible triggering mechanisms is extremely important in these patients and suggests the need for a systematic cardiac screening/treatment protocol for an effective prevention...
  22. Yildiz B, Durmus Aydogdu S, Kural N, Bildirici K, Basmak H, Yarar C. A patient with cystinosis presenting transient features of Bartter syndrome. Turk J Pediatr. 2006;48:260-2 pubmed
    ..of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome. However, in view of the growth failure, fair hair and skin, proteinuria, polyuria and active rickets, ..
  23. Simon D, Karet F, Hamdan J, DiPietro A, Sanjad S, Lifton R. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996;13:183-8 pubmed
  24. Chadha V, Alon U. Hereditary renal tubular disorders. Semin Nephrol. 2009;29:399-411 pubmed publisher
    ..In this review we address the current knowledge about the association between the genetics and clinical manifestations and treatment of representative disorders affecting the length of the nephron...
  25. Nozu K, Fu X, Kaito H, Kanda K, Yokoyama N, Przybyslaw Krol R, et al. A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. Pediatr Nephrol. 2007;22:1219-23 pubmed
    b>Bartter syndrome (BS) is a genetic disorder with hypokalemic metabolic alkalosis and is classified into five types...
  26. Lee B, Cho H, Lee H, Han K, Kang H, Ha I, et al. Genetic basis of Bartter syndrome in Korea. Nephrol Dial Transplant. 2012;27:1516-21 pubmed publisher
    b>Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS (aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; SLC12A1 (BS I), KCNJ1 (BS II), CLCNKB (BS III), BSND (BS IV) and CASR (..
  27. Jeck N, Konrad M, Peters M, Weber S, Bonzel K, Seyberth H. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res. 2000;48:754-8 pubmed
    ..included episodes of dehydration, weakness, and failure to thrive, much more suggestive of classic Bartter syndrome than of GS. The coexistence of hypomagnesemia and hypocalciuria was not present from the beginning...
  28. Unwin R, Capasso G. Bartter's and Gitelman's syndromes: their relationship to the actions of loop and thiazide diuretics. Curr Opin Pharmacol. 2006;6:208-13 pubmed
    ..This is a good example of one form of 'translational research', the message being the importance of our ability to link (in this instance) basic renal physiology and pharmacology, with clinical nephrology and genetics...
  29. Lin S, Cheng N, Hsu Y, Halperin M. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Am J Kidney Dis. 2004;43:304-12 pubmed
    ..Although the severity of symptoms may vary in patients who have the same mutations, a markedly different clinical presentation in family members with identical mutations is truly rare...
  30. Kömhoff M, Tekesin I, Peters M, Leonhard A, Seyberth H. Perinatal management of a preterm neonate affected by hyperprostaglandin E2 syndrome (HPS). Acta Paediatr. 2005;94:1690-3 pubmed
    ..Neonates affected by hyperprostaglandin E(2) syndrome (HPS) present with severe polyuria. Both urinary losses as well as prostaglandin synthesis inhibitors may precipitate acute renal failure (ARF)...
  31. Rodriguez Soriano J, Vallo A, Aguirre M. Bone mineral density and bone turnover in patients with Bartter syndrome. Pediatr Nephrol. 2005;20:1120-5 pubmed
    ..investigation was to evaluate bone mineral density (BMD), by use of DXA, and bone turnover, in patients with Bartter syndrome (BS). Ten patients (2 with BS type II and 8 with BS type III) were included in the procedure...
  32. Ellison D. Divalent cation transport by the distal nephron: insights from Bartter's and Gitelman's syndromes. Am J Physiol Renal Physiol. 2000;279:F616-25 pubmed
    ..These mechanisms are based on recent insights from another inherited disease of ion transport, inherited magnesium wasting, and from a review of the chronic effects of diuretic drugs in animals and people...
  33. Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, et al. Long-term follow-up of patients with Bartter syndrome type I and II. Nephrol Dial Transplant. 2010;25:2976-81 pubmed publisher
    Little information is available on a long-term follow-up in Bartter syndrome type I and II.
  34. Nüsing R, Seyberth H. The role of cyclooxygenases and prostanoid receptorsin furosemide-like salt losing tubulopathy: the hyperprostaglandin E syndrome. Acta Physiol Scand. 2004;181:523-8 pubmed
    Hyperprostaglandin E syndrome/antenatal Bartter syndrome is characterized by NaCl wasting and volume depletion, juxtaglomerula hypertrophy, hyperreninism and secondary hyperaldosteronism...
  35. Colussi G, Bettinelli A, Tedeschi S, De Ferrari M, Syren M, Borsa N, et al. A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clin J Am Soc Nephrol. 2007;2:454-60 pubmed
    Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, implementation of genetic testing for these disorders is still hampered by several difficulties, including large gene ..
  36. Bettinelli A, Borsa N, Syren M, Mattiello C, Coviello D, Edefonti A, et al. Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome. Pediatr Res. 2005;58:1269-73 pubmed
    ..and renal biopsy revealed focal segmental glomerular sclerosis; the girl showed the typical signs of classic Bartter syndrome. As described in a previous paper, a heterozygous mutation (frameshift 2534delT) was demonstrated in the gene ..
  37. Sharma A, Linshaw M. A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levels. Clin Exp Nephrol. 2011;15:572-6 pubmed publisher
    b>Bartter syndrome (BS) is a rare renal tubular disorder presenting with hypokalemic metabolic alkalosis, which is classified into five types. KCNJ1 mutations usually cause the neonatal form of BS, type II BS (OMIM 241200)...
  38. Rodriguez Soriano J. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol. 1998;12:315-27 pubmed
    It is now evident that the term Bartter syndrome does not represent a unique entity but encompasses a variety of disorders of renal electrolyte transport...
  39. Vargas Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel L, et al. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet. 1998;62:1332-40 pubmed
    Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis...
  40. Ozturk Y, Soylu O, Arslan N. Prevalence and clinical features of cystic fibrosis with pseudo-Bartter syndrome. Ann Trop Paediatr. 2006;26:155 pubmed
  41. Bettinelli A, Ciarmatori S, Cesareo L, Tedeschi S, Ruffa G, Appiani A, et al. Phenotypic variability in Bartter syndrome type I. Pediatr Nephrol. 2000;14:940-5 pubmed
    Limited phenotypic variability has been reported in patients with Bartter syndrome type I, with mutations in the Na-K-2Cl cotransporter gene (BSC)...
  42. Dane B, Dane C, Aksoy F, Cetin A, Yayla M. Antenatal Bartter syndrome: analysis of two cases with placental findings. Fetal Pediatr Pathol. 2010;29:121-6 pubmed publisher
    The prenatal diagnosis of Bartter syndrome can be based on the high chloride level in the amniotic fluid...
  43. Caltik A, Akyüz S, Erdogan O, Bulbul M, Demircin G. Rare presentation of cystinosis mimicking Bartter's syndrome: reports of two patients and review of the literature. Ren Fail. 2010;32:277-80 pubmed publisher
    We present here two girls with cystinosis initially diagnosed as Bartter syndrome. Both cases were admitted with hypokalemic, hypochloremic alkalosis...
  44. Chrispal A, Boorugu H, Prabhakar A, Moses V. Amikacin-induced type 5 Bartter-like syndrome with severe hypocalcemia. J Postgrad Med. 2009;55:208-10 pubmed publisher
    ..This phenomenon has been described with gentamicin though never with amikacin. Recovery of the tubular dysfunction took 15 days following cessation of the offending drug, Amikacin...
  45. Hebert S. Bartter syndrome. Curr Opin Nephrol Hypertens. 2003;12:527-32 pubmed
    ..describes recent advances in our understanding of the genetic heterogeneity, pathophysiology and treatment of Bartter syndrome, a group of autosomal recessive disorders that are characterized by markedly reduced or absent salt transport ..
  46. Bettinelli A, Borsa N, Bellantuono R, Syren M, Calabrese R, Edefonti A, et al. Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome. Am J Kidney Dis. 2007;49:91-8 pubmed
    ..Little information on the management and long-term follow-up of patients with biallelic mutations in the chloride channel gene CLCNKB is available...
  47. Duman O, Koyun M, Akman S, Guven A, Haspolat S. Case of Bartter syndrome presenting with hypokalemic periodic paralysis. J Child Neurol. 2006;21:255-6 pubmed
    ..Thyrotoxicosis, diuretic ingestions, hyperaldosteronism, barium poisoning, Gitelman syndrome, and Bartter syndrome are among the disorders causing secondary hypokalemic periodic paralysis...
  48. Kleta R, Bockenhauer D. Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol. 2006;104:p73-80 pubmed
    ..We summarize recent findings in the field in the context of human diseases and a pathophysiologic basis for their treatment...
  49. Garcia Nieto V, Flores C, Luis Yanes M, Gallego E, Villar J, Claverie Martin F. Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. Pediatr Nephrol. 2006;21:643-8 pubmed
    b>Bartter syndrome (BS) is a heterogeneous group of autosomal recessive hypokalaemic salt-losing tubulopathies...
  50. Finer G, Shalev H, Birk O, Galron D, Jeck N, Sinai Treiman L, et al. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J Pediatr. 2003;142:318-23 pubmed
    Identification of neonatal hyperkalemia as a complication of Bartter syndrome (BS), a disorder usually characterized by hypokalemic metabolic alkalosis...
  51. Rickheit G, Maier H, Strenzke N, Andreescu C, De Zeeuw C, Muenscher A, et al. Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV. EMBO J. 2008;27:2907-17 pubmed publisher
    Human Bartter syndrome IV is an autosomal recessive disorder characterized by congenital deafness and severe renal salt and fluid loss...
  52. Schlingmann K, Konrad M, Jeck N, Waldegger P, Reinalter S, Holder M, et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004;350:1314-9 pubmed
  53. Nozu K, Iijima K, Kanda K, Nakanishi K, Yoshikawa N, Satomura K, et al. The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies. J Clin Endocrinol Metab. 2010;95:E511-8 pubmed publisher
    ..However, the terminology of Bartter syndrome and Gitelman syndrome does not always accurately reflect their pathophysiological basis or clinical ..