Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl - co-transporter

Journal of the American Society of Nephrology

Volumn 17, Issue 8, 2006, Pages 2136-2142

  Pressler, Carsten A ^a   Heinzinger, Jolanta ^a   Jeck, Nikola ^a   Waldegger, Petra ^a   Pechmann, Ulla ^a   Reinalter, Stephan ^a   Konrad, Martin ^b   Beetz, Rolf ^c   Seyberth, Hannsjörg W ^a   Waldegger, Siegfried ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; FUROSEMIDE; POTASSIUM CHLORIDE; SODIUM POTASSIUM CHLORIDE COTRANSPORTER;

ADOLESCENT; ANIMAL TISSUE; ARTICLE; BARTTER SYNDROME; CASE REPORT; CHLORIDE URINE LEVEL; CONTROLLED STUDY; DIURESIS; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HENLE LOOP; HUMAN; HUMAN TISSUE; HYDRAMNIOS; HYPERURICEMIA; HYPOKALEMIA; KIDNEY CALCIFICATION; KIDNEY TUBULE ABSORPTION; MALE; METABOLIC ALKALOSIS; MOLECULAR GENETICS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREMATURITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; SLC12A1 GENE;

EID: 33746480895     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1681/ASN.2005101071     Document Type: Article

References (15)

1. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183-188, 1996
2. Jeck N, Schlingmann KP, Reinalter SC, Komhoff M, Peters M, Waldegger S, Seyberth HW: Salt handling in the distal nephron: Lessons learned from inherited human disorders. Am J Physiol Regul Integr Comp Physiol 288: R782-R795, 2005
3. Starremans PG, Kersten FF, Knoers NV, van den Heuvel LP, Bindels RJ: Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol 14: 1419-1426, 2003
4. 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
5. Zerangue N, Schwappach B, Jan YN, Jan LY: A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels. Neuron 22: 537-548, 1999
6. Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus GG, Konrad M, Seyberth HW: Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112: 183-190, 2002
7. Starremans PG, Kersten FF, Van Den Heuvel LP, Knoers NV, Bindels RJ: Dimeric architecture of the human bumetanide-sensitive Na-K-Cl co-transporter. J Am Soc Nephrol 14: 3039-3046, 2003
8. Greenberg A: Diuretic complications. Am J Med Sci 319: 10-24, 2000
9. Isenring P, Forbush B: Ion transport and ligand binding by the Na-K-Cl cotransporter, structure-function studies. Comp Biochem Physiol A Mol Integr Physiol 130: 487-497, 2001
10. Cheng HF, Wang JL, Zhang MZ, McKanna JA, Harris RC: Role of p38 in the regulation of renal cortical cyclooxygenase-2 expression by extracellular chloride. J Clin Invest 106: 681-688, 2000
11. Komhoff M, Jeck ND, Seyberth HW, Grone HJ, Nusing RM, Breyer MD: Cyclooxygenase-2 expression is associated with the renal macula densa of patients with Bartter-like syndrome. Kidney Int 58: 2420-2424, 2000
12. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW: Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 48: 754-758, 2000
13. Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschenes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 11: 1449-1459, 2000
14. Jentsch TJ: Chloride transport in the kidney: Lessons from human disease and knockout mice. J Am Soc Nephrol 16: 1549-1561, 2005
15. Haas M, Forbush B 3rd: The Na-K-Cl cotransporter of secretory epithelia. Annu Rev Physiol 62: 515-534, 2000