Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

@article{Brochard2009PhenotypegenotypeCI,
  title={Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.},
  author={Karine Brochard and Olivia Boyer and Anne Blanchard and Chantal Loirat and Patrick Niaudet and M S Macher and Georges Desch{\^e}nes and Albert Bensman and St{\'e}phane Decramer and Pierre Cochat and Denis Morin and Françoise Broux and Mathilde Caillez and Claude Guyot and Robert E Novo and Xavier Jeunema{\^i}tre and Rosa Vargas-Poussou},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  year={2009},
  volume={24 5},
  pages={1455-64}
}
BACKGROUND Ante/neonatal Bartter syndrome (BS) is a hereditary salt-losing tubulopathy due to mutations in genes encoding proteins involved in NaCl reabsorption in the thick ascending limb of Henle's loop. Our aim was to study the frequency, clinical characteristics and outcome of each genetic subtype. METHODS Charts of 42 children with mutations in KCNJ1 (n = 19), SLC12A1 (n = 13) CLCNKB (n = 6) or BSND (n = 4) were retrospectively analysed. The median follow-up was 8.3 [0.4-18.0] years… CONTINUE READING

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