Chronic enteropathy associated with SLCO2A1 gene

Chronic Enteropathy Associated with SLCO2A1 Gene

Autosomal recessive inheritance pattern

Chronic enteropathy associated with SLCO2A1 gene is a rare genetic disorder characterized by chronic inflammation of the intestines. This condition is linked to mutations in the SLCO2A1 gene, which encodes a protein involved in the transport of prostaglandins, substances that play a role in inflammation and other physiological processes.

Genetics

Chronic enteropathy associated with SLCO2A1 gene follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to manifest the disease. Carriers, who have only one copy of the mutation, typically do not show symptoms.

The SLCO2A1 gene is located on chromosome 3 and encodes the solute carrier organic anion transporter family member 2A1. Mutations in this gene disrupt the normal function of the transporter, leading to impaired prostaglandin transport and subsequent intestinal inflammation.

Clinical Features

Patients with chronic enteropathy associated with SLCO2A1 gene often present with symptoms such as abdominal pain, diarrhea, and weight loss. The condition can lead to complications like intestinal obstruction, anemia, and malnutrition.

The onset of symptoms typically occurs in childhood or early adulthood. The severity and progression of the disease can vary widely among affected individuals.

Diagnosis

Diagnosis of this condition involves a combination of clinical evaluation, genetic testing, and sometimes endoscopic examination of the intestines. Genetic testing can confirm the presence of mutations in the SLCO2A1 gene.

Treatment

There is currently no cure for chronic enteropathy associated with SLCO2A1 gene. Treatment focuses on managing symptoms and may include dietary modifications, anti-inflammatory medications, and nutritional support. In severe cases, surgical intervention may be necessary to address complications such as bowel obstruction.

Research

Ongoing research aims to better understand the pathophysiology of this condition and to develop targeted therapies. Studies are exploring the role of prostaglandin transport in intestinal health and the potential for gene therapy as a treatment option.

Related Pages

• Inflammatory bowel disease
• Genetic disorders
• Prostaglandin