The study examines three rare diseases related to congenital diarrhea and enteropathies with specific genetic mutations, highlighting their similarities in requiring long-term parenteral nutrition for treatment.
A systematic review of 86 articles revealed a mortality rate of 20.28% among 323 patients, with a median age at death of 13.5 months, and infections being the primary cause of death.
The review also noted that 95.4% of patients required parenteral nutrition, with only 29.35% successfully weaned off by a median age of 23 months, showing varying growth challenges among different genetic conditions.