From the Research
Definition and Characteristics of Tufting Enteropathy
- Tufting enteropathy (TE) is a rare congenital enteropathy characterized by refractory diarrhea in the neonatal period 1.
- It presents clinical and histological heterogeneity and may be associated with birth defects and punctuate keratitis 1.
- TE is also known as intestinal epithelial dysplasia, and it is characterized by villous atrophy, epithelial dysplasia, and disorganization of the surface epithelium, resembling tufts in jejunal and ileal tissue 1, 2.
Clinical Presentation and Management
- Patients with TE typically require parenteral nutrition for prolonged periods, with the risk of complications such as catheter-related infections 1, 3.
- Some patients may have a more favorable outcome, with progressive weaning off parenteral nutrition possible in some cases 2.
- Small bowel transplantation may be necessary in severe cases 1, 4.
- Recent studies have identified mutations in the EpCAM gene as a cause of TE, and molecular analysis techniques have improved diagnostic methods 4, 5.
Histological Features and Diagnosis
- The histological features of TE include villous atrophy, epithelial dysplasia, and disorganization of the surface epithelium, with characteristic tufts in jejunal and ileal tissue 1, 2.
- Duodenal and rectal biopsies may be used to diagnose TE, with immunohistochemistry for CD10 and PAS staining performed to study the biopsy material 1.
- The diagnosis of TE can be challenging, and children suspected of having TE should be referred to specialized pediatric centers for further evaluation and management 1.