Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome (THE-s) is a rare and complex disease that affects many parts of the body, particularly the hair (tricho-), liver (hepato-), and intestines (enteric). This condition is characterized by chronic diarrhea and liver disease, which can lead to severe complications if not properly managed.
Symptoms[edit | edit source]
The most common symptoms of THE-s include:
- Chronic diarrhea, which often begins in infancy
- Liver disease, which can lead to cirrhosis and liver failure
- Woolly and brittle hair, which is often sparse and easily broken
- Growth delay, both in the womb and after birth
- Intellectual disability, which can range from mild to severe
Causes[edit | edit source]
THE-s is caused by mutations in the TTC37 or SKIV2L genes. These genes provide instructions for making proteins that are part of a complex involved in the degradation of certain types of RNA, a molecule that is a chemical cousin of DNA. Mutations in either of these genes disrupt the function of this complex, leading to the varied symptoms of THE-s.
Diagnosis[edit | edit source]
Diagnosis of THE-s is based on the presence of characteristic symptoms and confirmed by genetic testing. This testing can identify mutations in the TTC37 or SKIV2L genes.
Treatment[edit | edit source]
Treatment of THE-s is focused on managing the symptoms and preventing complications. This may include nutritional support for chronic diarrhea and medications to manage liver disease. In severe cases, a liver transplant may be necessary.
Prognosis[edit | edit source]
The prognosis for individuals with THE-s varies. Some individuals have a mild form of the disease and live into adulthood, while others have a severe form of the disease and may not survive past infancy.
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