先天性簇绒肠病EpCAM基因复合杂合突变（c.491+1G>A；c.352_353ins CACC）1例报告

患儿男，1月龄，因“反复腹泻20+ d，吐奶4 d”入院。患儿生后第8天开始出现反复顽固性腹泻，伴腹胀、呕吐、脱水、酸中毒、营养不良，家族中多例消化系统恶性肿瘤患者。基因检测发现人上皮黏附因子（epithelial cell adhesion molecule, EpCAM）基因复合杂合突变（c.491+1G>A；c.352_353ins CACC），确诊为先天性簇绒肠病。予部分肠外营养支持，患儿腹泻好转，但加奶困难，奶量增加即腹胀、呕吐。住院后期出现反复发热，最终家属签字出院。出院后仍有腹泻、吐奶，出院4周患儿体质量下降约1 kg，最终死亡。

A Case of Congenital Tufting Enteropathy with EpCAM Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)

The patient, a one-month-old male infant, was admitted for “recurrent diarrhea for 20+ days and vomiting for 4 days”. On the 8th day after birth, the patient began to develop recurrent refractory diarrhea, accompanied by abdominal distension, vomiting, dehydration, acidosis, and malnutrition. There were many cases of malignant tumors of the digestive system in the patient’s family. Genetic testing identified compound heterozygous mutations (c.491+1G>A; c.352_353ins CACC) in epithelial cell adhesion molecule (EpCAM) gene and the patient was hence diagnosed with congenital tufting enteropathy. The patient was given partial parenteral nutrition support. The patient’s diarrheal symptom was improved, but it was difficult to increase the amount of formula because any increase in the amount of formula for the patient would inevitably result in abdominal distention and vomiting. The patient experienced repeated fever in the later period of hospitalization and was eventually discharged from the hospital with the family’s signed consent. He still had diarrhea and vomiting after leaving the hospital. Four weeks after discharge, the patient lost about 1 kg of weight and eventually died.