We excluded other congenital renal tubular diseases by NGS analysis, such as autosomal dominant hypocalcemia, HNF1B-related nephropathy, cystic fibrosis, congenital chloride diarrhea, nephronophthisis, Dent’s disease, mitochondrial disease, renal tubular acidosis and congenital anomalies of the kidney and urinary tract, which are known to present with hypokalemia [2]. Here, HNF1B is linked to nephronophthisis.