In this study, we identified four patients who had compound heterozygous variants or homozygous variants of the CLCNKB gene, including a novel nonsense variant c.239G > A (p.(Trp80*)), two splice site variants (c.1053-1G > A and c.1228-2A > G), a whole gene deletion and a novel synonymous variant c.228A > C. The clinical features present in our four patients are generally consistent with the pathophysiology found in Bartter syndrome, including hyponatremia, hypokalemia, hypochloremia, repeated vomiting and growth retardation. Here, CLCNKB is linked to Bartter syndrome.