PERCC1-associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

Area of Science:

• Genetics
• Gastroenterology
• Pediatrics

Background:

• Congenital diarrheas and enteropathies (CODE) are rare inherited disorders causing early-onset intractable diarrhea.
• Current treatments for CODE are primarily supportive, lacking curative therapies.
• Understanding the genetic basis of CODE is crucial for developing targeted treatments.

Purpose of the Study:

• To identify the genetic cause of intractable diarrhea and failure to thrive in a pediatric patient.
• To investigate the role of a novel PERCC1 mutation in congenital enteropathy.
• To evaluate the efficacy of teduglutide in managing severe osmotic diarrhea.

Main Methods:

• Whole exome sequencing to detect genetic variations.
• Whole genome sequencing to identify novel mutations.
• Clinical assessment and nutritional support management.

Main Results:

• A 3-year-old patient presented with intractable diarrhea and failure to thrive.
• Uniparental disomy of chromosome 16 and a novel PERCC1 mutation were identified.
• The patient, previously dependent on parenteral nutrition, was successfully weaned after teduglutide treatment.

Conclusions:

• A novel PERCC1 mutation is linked to congenital enteropathy and intractable osmotic diarrhea.
• Teduglutide demonstrates efficacy in managing severe cases of congenital enteropathy.
• This case highlights the importance of genetic diagnosis and targeted therapy in rare pediatric gastrointestinal disorders.