Congenital tufting enteropathy
From Wikipedia, the free encyclopedia
| Congenital tufting enteropathy | |
|---|---|
| Specialty | Gastroenterology |
Congenital tufting enteropathy is an inherited disorder of the small intestine that presents with intractable diarrhea in young children.
Associated conditions
The infants present in the first few days of life with watery diarrhoea. This leads rapidly to dehydration and electrolyte imbalance and metabolic decompensation. Enteral feeding with a protein hydrolysate or amino acid based formulas worsen the diarrhoea and the children rapidly fail to thrive and develop protein energy malnutrition.
In the majority of cases the severity of the malabsorption and diarrhoea make them dependent on daily long term total parenteral nutrition.
Hepatic fibrosis and cirrhosis are known complications.
- Choanal atresia
- Nonspecific punctuated keratitis (60%)
- Oesophageal atresia
- Unperforated anus
Genetics
Two genes have been associated with this condition:[1][2] Epithelial cell adhesion molecule (EpCAM) on chromosome 2 (2p21) and SPINT2 on chromosome 19. SPINT2 is a Kunitz-type protease inhibitor.
The mutation in the EpCAM gene in Kuwait and Qatar appears to have originated 5000–6000 years ago.[3]
Pathology
Histological examination of the small bowel shows varying degrees of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria. The most important feature involves the epithelium where the surface enterocytes are disorganized with focal crowding creating structures resembling tufts.
Other features that have been reported include the abnormal deposition of laminin and heparan sulfate proteoglycan within the basement membrane and increased expression of desmoglein. Electron microscopic changes in the desmosomes have been noted as have abnormal distribution of alpha2beta1 integrin adhesion molecules.
Diagnosis
Management
Bowel transplantation may be an option.