Neonatal cholestasis (NC) is a rare clinical condition characterized by decreased bile drainage and direct hyperbilirubinemia (1). Acholic stool and high gamma-glutamyl transferase (GGT) associated with cholestasis are specific findings for biliary atresia (BA). However, further etiologies must be investigated if operative cholangiography (OC) is not diagnostic.
Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Herein, we report a very low-birth-weight premature newborn with antenatal BS caused by a novel homozygous mutation in the SLC12A1 gene, c.596G>A (p.R199H).
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