Early onset congenital diarrheas; single center experience

Area of Science:

• Pediatric Gastroenterology
• Clinical Genetics
• Rare Diseases

Background:

• Congenital diarrheal disorders (CDDs) are rare enteropathies presenting in early infancy.
• These conditions pose significant diagnostic challenges for clinicians.
• Understanding clinical findings and outcomes is crucial for management.

Purpose of the Study:

• To analyze clinical findings and patient outcomes in infants with CDDs.
• To evaluate the utility and impact of genetic testing in diagnosing CDDs.
• To share clinical experience and insights on genetic testing for CDDs.

Main Methods:

• Retrospective analysis of demographic, clinical, and genetic data from 24 CDD patients.
• Genetic analyses included targeted gene analysis, congenital diarrhea panels, immune deficiency panels, and whole-exome sequencing.
• Patient outcomes and therapeutic consequences of genetic diagnoses were recorded.

Main Results:

• Diarrhea onset in neonatal period for 45.8% of patients.
• Common causes included defects in nutrient/electrolyte digestion, absorption, and transport (DATN) (45.8%), and intestinal immune-related homeostasis (IIH) (25%).
• Genetic diagnosis was achieved in 87.5% of tested patients, leading to therapeutic changes in 50% and a decrease in undefined etiologies.

Conclusions:

• Increased genetic testing in CDD patients reduces undefined etiologies.
• Genetic testing improves patient treatment and outcomes.
• Early diagnosis through genetic analysis is vital for managing congenital diarrheal disorders.