ES performed in proband 1 showed variants of unknown significance in the following genes: ANLN (associated with FSGS), NM_018685, hemizygous c.2748 + 6 T > C (splicing); CLCNKB (associated with Bartter Syndrome Type 3 and Type 4B clinically featured by hypokalaemic metabolic alkalosis) hemizygous c.118delA (NM_001165945) and c.782-10_782-8delCCT (splicing, NM_000085) [18–20]. This evidence concerns the gene CLCNKB and Bartter disease type 3.