先天性失氯性腹泻(CCD)是一种常染色体隐性遗传病,因SLC26A3(the solute-linked carrier family 26 member A3)基因突变所致。临床主要表现为新生儿期即开始出现持续水样便,低氯血症、低钠血症、低钾血症和代谢性碱中毒等水电解质平衡紊乱,大便中Cl-明显增高常在90mmol/L以上可以明确诊断。只要能早期诊断、早期给予替代治疗,预后良好。 Congenital dechlorination-induced diarrhea (CCD) is an autosomal recessive disease caused by a mutation in the SLC26A3 (the solute-linked carrier family 26 member A3) gene. Clinically, the main clinical manifestations of persistent watery stool began to occur in the neonatal period, hypochlorosis, hyponatremia, hypokalemia and metabolic alkalosis and other water and electrolyte balance disorders, stool significantly increased Cl- in 90mmol / L or more can be a clear diagnosis. As long as early diagnosis, early replacement therapy, the prognosis is good.