| Autor: |
Georges Deschênes, Arnold Köckerling, Henny H. Lemmink, Willy M. Nillesen, Lisa M. Guay-Woodford, Dorthe K. Zimmermann, Lothar Károlyi, Christian Wieg, Lambertus P. van den Heuvel, Corinne Antignac, Karl-Heinz Grzeschik, Louis David, Christopher J. Wright, Pascal Saunier, Michele Deschaux, R. Vargas, Friedhelm Hildebrandt, Hannsjörg W. Seyberth, Andreas Ziegler, Nine V A M Knoers, Matthias Brandis, Lionel Forestier, Willem Proesmans, Emmanuel Cougoureux, Jean-Luc Alessandri, Steven C. Hebert, Manuela C. Koch, Martin Konrad, Delphine Feldmann, Gian Franco Rizzoni, Leo A. H. Monnens, Geneviève Jean, Gilbert Madrigal, Niaudet P, Frederique Lorridon, Martin Vollmer, Bernd Roth |
| Rok vydání: |
1997 |
| Předmět: |
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| Zdroj: |
Human molecular genetics. 6(1) |
| ISSN: |
0964-6906 |
| Popis: |
Inherited renal tubular disorders associated with hypokalemic alkalosis (Bartter-like syndromes) can be subdivided into at least three clinical phenotypes: (i) the hypocalciuric-hypomagnesemic Gitelman variant; (ii) the classic variant; and (iii) the antenatal hypercalciuric variant (also termed hyperprostaglandin E syndrome). Mutations in the Na-Cl cotransporter (NCCT) underlie the pathogenesis of the Gitelman variant and mutations in the Na-K-2Cl cotransporter (NKCC2) have recently been identified in the antenatal hypercalciuric variant. We now describe mutations in the gene encoding the inwardly-rectifying potassium channel, ROMK, in eight kindreds with the antenatal variant of Bartter syndrome. These findings indicate that antenatal Bartter syndrome is genetically heterogeneous and provide new insights into the molecular pathogenesis of Bartter-like syndromes. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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