Portal de Periódicos da CAPES

Novel Molecular Variants of the Na-K-2Cl Cotransporter Gene Are Responsible for Antenatal Bartter Syndrome

1998; Elsevier BV; Volume: 62; Issue: 6 Linguagem: Inglês

10.1086/301872

1537-6605

Rosa Vargas‐Poussou, Delphine Feldmann, Martin Vollmer, Martin Konrad, Lisa E. Kelly, Lambertus P. van den Heuvel, Lamia Tebourbi, M. Brandis, Lothar Károlyi, Steven Hébert, Henny H. Lemmink, Georges Deschênes, Friedhelm Hildebrandt, Hannsjörg W. Seyberth, Lisa M. Guay‐Woodford, Nine V.A.M. Knoers, Corinne Antignac,

Electrolyte and hormonal disorders

Summary Antenatal Bartter syndrome is a variant of inherited renal-tubular disorders associated with hypokalemic alkalosis. This disorder typically presents as a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of this variant is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. We have analyzed 15 probands belonging to 13 families and have performed SSCP analysis of the coding sequence and the exon-intron boundaries of the NKCC2 gene; and we report 14 novel mutations in patients with antenatal Bartter syndrome, as well as the identification of three isoforms of human NKCC2 that arise from alternative splicing.