Bhardwaj Swati, Pandit Deepti, Sinha Aditi, Hari Pankaj, Cheong Hae Il, Bagga Arvind
Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea.
Indian J Pediatr. 2016 Aug;83(8):859-61. doi: 10.1007/s12098-015-1944-7. Epub 2015 Dec 5.
The authors report a case of congenital chloride diarrhea with molecular confirmation of diagnosis. A 10-mo-old boy presented with failure to thrive, voluminous diarrhea, dehydration, hyponatremia, hypokalemia, metabolic alkalosis and history of maternal polyhydramnios. The diagnosis of congenital chloride diarrhea was based on high fecal and low urinary chloride excretion, in addition to biochemical abnormalities. Genetic testing revealed a novel homozygous mutation in exon 4 of the SLC26A3 gene that encodes the protein regulating chloride bicarbonate absorption in distal ileum and colon. Therapy with oral fluids and electrolytes led to decrease in stool frequency and improvement in growth parameters.
作者报告了一例经分子诊断确诊的先天性氯腹泻病例。一名10个月大的男婴出现生长发育迟缓、大量腹泻、脱水、低钠血症、低钾血症、代谢性碱中毒以及母亲羊水过多病史。先天性氯腹泻的诊断基于高粪便氯排泄和低尿液氯排泄，以及生化异常。基因检测显示，编码调节回肠末端和结肠中氯碳酸氢盐吸收蛋白的SLC26A3基因第4外显子存在一种新的纯合突变。口服液体和电解质治疗使大便次数减少，生长参数得到改善。
