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. Associated genes include GUCY2C.