Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation.

The article informs about congenital chloride diarrhea (CCD) in a Japanese neonate with a novel SLC26A3 mutation. Topics include causative mutation in a Japanese girl suspected to have CCD based upon fetal magnetic resonance imaging (MRI) findings and biochemical abnormalities in amniotic fluid; and Untreated CCD leads to early death from impaired renal function and end-stage renal disease.