Congenital tufting enteropathy

Congenital tufting enteropathy (CTE) is a rare genetic disorder that affects the lining of the small intestine. It is characterized by the presence of abnormal tufts or finger-like projections on the surface of the intestinal lining. This condition leads to severe diarrhea and malabsorption, resulting in poor growth and development in affected individuals.

Symptoms

The symptoms of congenital tufting enteropathy typically appear within the first few weeks of life. The most common symptom is chronic diarrhea, which is often watery and can lead to dehydration. Other symptoms may include:

• Failure to thrive: Infants with CTE may have difficulty gaining weight and growing at a normal rate.
• Malabsorption: The abnormal intestinal lining in CTE impairs the absorption of nutrients, leading to deficiencies in vitamins, minerals, and other essential substances.
• Electrolyte imbalances: Chronic diarrhea can disrupt the balance of electrolytes in the body, leading to abnormalities in blood levels of sodium, potassium, and other minerals.
• Abdominal distension: The accumulation of gas and fluid in the intestines can cause the abdomen to become swollen and distended.
• Intestinal inflammation: In some cases, CTE can lead to inflammation of the intestines, which may cause abdominal pain and discomfort.

Causes

Congenital tufting enteropathy is caused by mutations in the EPCAM gene or the SPINT2 gene. These genes provide instructions for producing proteins that are involved in the development and maintenance of the intestinal lining. Mutations in these genes disrupt the normal structure and function of the intestinal epithelium, leading to the characteristic tufting and other abnormalities seen in CTE.

Diagnosis

Diagnosing congenital tufting enteropathy can be challenging, as the symptoms can be similar to other gastrointestinal disorders. A thorough medical history, physical examination, and laboratory tests are usually conducted to rule out other possible causes of the symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the EPCAM or SPINT2 genes.

Treatment

There is currently no cure for congenital tufting enteropathy, and treatment focuses on managing the symptoms and complications associated with the condition. This typically involves a multidisciplinary approach, including:

• Nutritional support: Infants with CTE may require specialized formulas or parenteral nutrition to ensure they receive adequate nutrition.
• Fluid and electrolyte management: Rehydration and correction of electrolyte imbalances are important in managing chronic diarrhea.
• Medications: In some cases, medications such as anti-inflammatory drugs or immunosuppressants may be prescribed to reduce intestinal inflammation.
• Surgical interventions: In severe cases of CTE, surgical interventions such as intestinal transplantation may be considered.

Prognosis

The prognosis for individuals with congenital tufting enteropathy varies depending on the severity of the condition and the effectiveness of treatment. With appropriate management, some individuals may experience improvement in symptoms and achieve normal growth and development. However, others may continue to experience chronic diarrhea and malabsorption, which can lead to long-term complications such as nutrient deficiencies and impaired growth.