Pädiatrie pp 1323-1337 | Cite as

Krankheiten des renalen Tubulussystems

  • F. Hildebrandt
  • M. Brandis

Zusammenfassung

Die Aufgabe des renalen Tubulussystems besteht in der Rückresorption von Wasser und gelösten Substanzen aus dem Glomerulumfiltrat.

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Literatur

  1. International Collaborative Study Group for Bartter-like syndromes (1997) Mutations in the gene incoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 6:17–26CrossRefGoogle Scholar
  2. Rodriguez-Soriano J (1998) Bartter and related syndromes: the puzzle is almost solved. Ped Nephrol 12: 315–327CrossRefGoogle Scholar
  3. Simon DB, Nelson-Williams C, Bia MJ et al. (1996) Gitelman’s variant of Bartter syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12:24–30PubMedCrossRefGoogle Scholar
  4. Simon DB, Karet FE, Hamdan JM, Di Pietro A, Sanjad SA, Lifton RP (1996) Bartter’s syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2C1 cotransporter NKCC2. Nat Genet 13: 183–188PubMedCrossRefGoogle Scholar
  5. Simon DB, Bindra R, Mansfield TA et al. (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter’s syndrome type III. Nat Genet 17: 171–178PubMedCrossRefGoogle Scholar
  6. Vargas-Pousou R, Feldman D, Vollmer M et al. (1998) Novel molecular variants of the NaK2CL cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet 62:1332–1340CrossRefGoogle Scholar
  7. Vollmer M, Koehrer M, Topaloglu R, Strahm B, Omran H, Hildebrandt F (1998) Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome. Pediatr Nephrol 12: 69–71PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2003

Authors and Affiliations

  • F. Hildebrandt
  • M. Brandis

There are no affiliations available

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