The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Bartter Syndrome

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Bartter Syndrome


High impact information on Bartter Syndrome


Chemical compound and disease context of Bartter Syndrome

  • Human CLC-KB has been identified as a kidney-specific member of the CLC chloride channel family, and mutations of the human CLC-KB gene are known to cause Bartter syndrome type III [10].
  • Increased formation of prostaglandin E2 (PGE2) is a key part of hyperprostaglandin E syndrome/antenatal Bartter syndrome (HPS/aBS), a renal disease characterized by NaCl wasting, water loss, and hyperreninism [9].
  • Amelioration of the clinical symptoms by use of nimesulide indicates that COX-2 may play an important pathogenetic role in hyperprostaglandin E syndrome/antenatal Bartter syndrome [1].
  • In addition to findings typically seen in patients with Bartter syndrome or hyperprostaglandin E syndrome, she had massive urinary excretion of prostaglandins E2 and E-M, normal calcium metabolism, hyperphosphaturia, and severe hyperchloriduria and hyperkaliuria with limited response to indomethacin [11].
  • Although certain aspects of this condition resemble Bartter syndrome, the low concentrations of aldosterone and the absence of evidence for mineralocorticoid excess suggest a previously undescribed syndrome [12].

Biological context of Bartter Syndrome


Anatomical context of Bartter Syndrome

  • Because PGE2 is known to inhibit the response of lymphocytes to phytohemagglutinin, we postulate that PGE2 may mediate the reduced blastogenic response observed in patients with Bartter syndrome [17].

Gene context of Bartter Syndrome


Analytical, diagnostic and therapeutic context of Bartter Syndrome


  1. Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: therapeutic use of the cyclooxygenase-2 inhibitor nimesulide. Nüsing, R.M., Reinalter, S.C., Peters, M., Kömhoff, M., Seyberth, H.W. Clin. Pharmacol. Ther. (2001) [Pubmed]
  2. Hypercalciuric Bartter syndrome: resolution of nephrocalcinosis with indomethacin. Matsumoto, J., Han, B.K., Restrepo de Rovetto, C., Welch, T.R. AJR. American journal of roentgenology. (1989) [Pubmed]
  3. Prenatal diagnosis of Bartter syndrome. Shalev, H., Ohaly, M., Meizner, I., Carmi, R. Prenat. Diagn. (1994) [Pubmed]
  4. Adrenomedullin and nitrite levels in children with Bartter syndrome. Balat, A., Cekmen, M., Yürekli, M., Kutlu, O., Islek, I., Sönmezgöz, E., Cakir, M., Türköz, Y., Yoloğlu, S. Pediatr. Nephrol. (2000) [Pubmed]
  5. pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome. Schulte, U., Hahn, H., Konrad, M., Jeck, N., Derst, C., Wild, K., Weidemann, S., Ruppersberg, J.P., Fakler, B., Ludwig, J. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  6. Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Brennan, T.M., Landau, D., Shalev, H., Lamb, F., Schutte, B.C., Walder, R.Y., Mark, A.L., Carmi, R., Sheffield, V.C. Am. J. Hum. Genet. (1998) [Pubmed]
  7. Intrinsic sensitivity of Kir1.1 (ROMK) to glibenclamide in the absence of SUR2B. Implications for the identity of the renal ATP-regulated secretory K+ channel. Konstas, A.A., Dabrowski, M., Korbmacher, C., Tucker, S.J. J. Biol. Chem. (2002) [Pubmed]
  8. A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. Derst, C., Wischmeyer, E., Preisig-Müller, R., Spauschus, A., Konrad, M., Hensen, P., Jeck, N., Seyberth, H.W., Daut, J., Karschin, A. J. Biol. Chem. (1998) [Pubmed]
  9. Dominant role of prostaglandin E2 EP4 receptor in furosemide-induced salt-losing tubulopathy: a model for hyperprostaglandin E syndrome/antenatal Bartter syndrome. Nüsing, R.M., Treude, A., Weissenberger, C., Jensen, B., Bek, M., Wagner, C., Narumiya, S., Seyberth, H.W. J. Am. Soc. Nephrol. (2005) [Pubmed]
  10. Human CLC-KB gene promoter drives the EGFP expression in the specific distal nephron segments and inner ear. Kobayashi, K., Uchida, S., Okamura, H.O., Marumo, F., Sasaki, S. J. Am. Soc. Nephrol. (2002) [Pubmed]
  11. Severe hyperchloriduria-hyperkaliuria: a new congenital renal tubular abnormality? Meyburg, J., Mayatepek, E., Hoffmann, G.F., Linderkamp, O., Seyberth, H.W. J. Pediatr. (1996) [Pubmed]
  12. Hypokalemia, normal blood pressure, and hyperreninemia with hypoaldosteronism. Bergstein, J.M., Weinberger, M.H. J. Pediatr. (1981) [Pubmed]
  13. Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome. Bettinelli, A., Borsa, N., Syrén, M.L., Mattiello, C., Coviello, D., Edefonti, A., Giani, M., Travi, M., Tedeschi, S. Pediatr. Res. (2005) [Pubmed]
  14. Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. Vollmer, M., Jeck, N., Lemmink, H.H., Vargas, R., Feldmann, D., Konrad, M., Beekmann, F., van Den Heuvel, L.P., Deschenes, G., Guay-Woodford, L.M., Antignac, C., Seyberth, H.W., Hildebrandt, F., Knoers, N.V. Nephrol. Dial. Transplant. (2000) [Pubmed]
  15. Elevated aldosterone in amniotic fluid and maternal blood has diagnostic potential in pregnancies complicated with a fetus of Bartter syndrome. Nakanishi, T., Suzumori, N., Mizuno, H., Suzuki, K., Sato, T., Tanemura, M., Suzuki, Y., Suzumori, K. Fetal. Diagn. Ther. (2005) [Pubmed]
  16. A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Rodríguez-Soriano, J., Vallo, A., Pérez de Nanclares, G., Bilbao, J.R., Castaño, L. Pediatr. Nephrol. (2005) [Pubmed]
  17. Serum inhibitor of phytohemagglutinin-induced lymphocyte proliferation in Bartter syndrome. Garin, E.H., Sausville, P.J., Richard, G.A. J. Pediatr. (1983) [Pubmed]
  18. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. Miyamura, N., Matsumoto, K., Taguchi, T., Tokunaga, H., Nishikawa, T., Nishida, K., Toyonaga, T., Sakakida, M., Araki, E. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  19. Bartter syndrome. Hebert, S.C. Curr. Opin. Nephrol. Hypertens. (2003) [Pubmed]
  20. A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age. Gorgojo, J.J., Donnay, S., Jeck, N., Konrad, M. Horm. Res. (2006) [Pubmed]
  21. Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family. Hebert, S.C., Mount, D.B., Gamba, G. Pflugers Arch. (2004) [Pubmed]
  22. Neonatal Bartter syndrome--use of indomethacin in the newborn period and prevention of growth failure. Mackie, F.E., Hodson, E.M., Roy, L.P., Knight, J.F. Pediatr. Nephrol. (1996) [Pubmed]
WikiGenes - Universities