[A Case of Congenital Tufting Enteropathy with EpCAM Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins
Mai Yang1,2, Yong-Mei Xie1,2, Hai-Yang Zhang1,2
1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Insights
Congenital tufting enteropathy, a rare genetic disorder, caused severe infant diarrhea and vomiting due to EpCAM gene mutations. Early diagnosis and nutritional support are critical for managing this condition.
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
- Molecular Biology
Background:
- Congenital tufting enteropathy (CTE) is a rare, severe form of infant diarrhea.
- Genetic mutations, particularly in the EpCAM gene, are implicated in CTE pathogenesis.
- Family history of digestive system malignancies may indicate a predisposition.
Observation:
- A one-month-old infant presented with prolonged refractory diarrhea, vomiting, abdominal distension, dehydration, acidosis, and malnutrition.
- Genetic analysis revealed compound heterozygous mutations (c.491+1G>A; c.352_353ins CACC) in the epithelial cell adhesion molecule (EpCAM) gene.
- Despite partial parenteral nutrition, formula tolerance remained poor, leading to persistent symptoms.
Findings:
- The patient was diagnosed with congenital tufting enteropathy based on clinical presentation and genetic findings.
- The identified EpCAM gene mutations are causative for the severe gastrointestinal dysfunction.
- Despite medical interventions, the infant experienced recurrent infections and failed to thrive.
Implications:
- This case highlights the critical role of genetic testing in diagnosing rare pediatric gastrointestinal disorders like CTE.
- Understanding the molecular basis of CTE aids in developing targeted therapeutic strategies.
- Early diagnosis and tailored nutritional management, including parenteral nutrition, are vital for improving outcomes in affected infants.
Abstract:
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.
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