congenital diarrhea 6

Congenital diarrhea 6 is a condition characterized by persistent diarrhea present from birth, resulting from a mutation in the GUCY2C gene. This gene plays a role in regulating intestinal fluid balance, and its alteration leads to chronic diarrhea. The condition is inherited in an autosomal dominant manner and is very rare, affecting fewer than one individual in a million. While most affected individuals experience chronic diarrhea, other symptoms may vary in their occurrence and severity.

The primary clinical feature of congenital diarrhea 6 is chronic diarrhea, which is always present. Many individuals also experience meteorism, or bloating, with this symptom reported in the majority of cases. In a smaller subset of individuals, decreased circulating vitamin B12 concentration and features resembling Crohn’s disease have been observed. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the GUCY2C gene, which normally helps regulate fluid secretion in the intestines. The mutation leads to overactivity of the encoded enzyme, disrupting normal intestinal function and causing persistent diarrhea. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the variant to each child. Genetic counseling is recommended to help families understand the inheritance and potential implications for family planning.

Currently, management of congenital diarrhea 6 focuses on supportive care and symptom management, as there are no FDA-approved treatments specifically for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team to address hydration, nutritional needs, and any related complications. Patients and families are encouraged to discuss treatment options with their healthcare team, and genetic counseling is recommended to guide family planning and management strategies.

The outlook for individuals with congenital diarrhea 6 varies, with outcomes depending on symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals manage their symptoms into adulthood while experiencing varying degrees of impact on quality of life. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with the condition and to consider genetic counseling for ongoing guidance.