congenital chloride diarrhea
Congenital chloride diarrhea is a rare genetic disorder that affects the intestines, leading to severe diarrhea from birth. It is caused by mutations in the SLC26A3 gene, which is responsible for transporting chloride ions in the gut. This results in an imbalance of electrolytes and fluids, causing the body to lose large amounts of chloride and water.
The condition is typically diagnosed in infancy and can lead to dehydration and electrolyte imbalances if not managed properly. Treatment often involves maintaining hydration and electrolyte levels, and in some cases, a special diet may be necessary to help manage symptoms.