先天性失氯性腹泻

Congenital chloride-losing diarrhea

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 chloride-losing diarrhea（CCD） is a rare autosomal recessive disease,characterized by disturbance of intestinal Cl^-/HCO3^-exchange caused by mutations in the SLC26A3（the solute-linked carrier family 26 member A3） gene.The main clinical feature of CCD is persistent,life-long watery diarrhea started from newborn,which leads to severe electrolyte disturbances with metabolic alkalosis,hypochloremia,hyponatremia,and hypokalemia.Diagnosis can be confirmed on the basis of high fecal chloride concentration（〉 90 mmol/L）.The prognosis is good with an early diagnosis and replacement therapy.