Congenital short bowel

Congenital Short Bowel Syndrome (CSBS) is a rare gastrointestinal disorder characterized by a smaller-than-normal small intestine. The condition is present at birth (congenital) and affects the body's ability to absorb nutrients from food during digestion due to the reduced length of the small intestine.

Causes

CSBS is typically caused by genetic mutations. The most common mutation associated with CSBS is in the CLMP gene. This gene provides instructions for making a protein that is involved in the adhesion of cells. When this gene is mutated, it can lead to the malformation of the small intestine during fetal development.

Symptoms

The primary symptom of CSBS is severe diarrhea which can lead to dehydration, malnutrition, and failure to thrive. Other symptoms may include abdominal pain, bloating, and fatigue.

Diagnosis

Diagnosis of CSBS is typically made through a combination of physical examination, medical history, and imaging studies such as ultrasound or MRI. A definitive diagnosis can be confirmed through a biopsy of the small intestine.

Treatment

Treatment for CSBS is primarily supportive and aims to manage symptoms and prevent complications. This may include nutritional support, such as parenteral nutrition, and medications to manage diarrhea and other symptoms. In severe cases, intestinal transplantation may be considered.

Prognosis

The prognosis for individuals with CSBS varies. With appropriate management, many individuals can lead relatively normal lives. However, complications such as malnutrition and infection can be life-threatening.

See Also

• Short Bowel Syndrome
• Gastrointestinal Disorders
• Genetic Disorders

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