(Coto et al. 2004) To date, more than 30 CLCNKB variants have been reported (Pierre Robitaille et al. 2011; Israel et al. 2003; Fukuyama et al. 2003; Fukuyama et al. 2004; Rodriguez et al. 2005; Yu et al. 2010; Xiumin et al. 2013; Gorgojo et al. 2006; Lee et al. 2012; Toshihiro et al. 2006; Enriquez et al. 2010; Konrad et al. 2000a) in patients with classical BS phenotype, atypical BS or mixed Bartter-Gitelman phenotypes as found in our patients. This evidence concerns the gene CLCNKB and Bloom syndrome.