Early onset congenital diarrheas; single center experience

Abstract

Background: Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and share experience about genetic testing. Methods: Demographic, clinical and genetic findings, and outcome of the patients (n Z 24) with CDDs were recorded from hospital files. Results: The onset of diarrhea was within the neonatal period in 45.8% of the patients. The most frequent causes of CDDs were defects in digestion, absorption and transport of nutrients and electrolytes (DATN) (n Z 11, 45.8%) and defects in intestinal immune-related homeostasis (IIH) (n Z 6, 25%). Fat malabsorption (n Z 6) was the leading cause of defects in DATN. Extraintestinal manifestations including neurological involvement (25%) and renal involvement (20.8%) were common among the patients. Genetic analyses were performed for 16 patients (targeted gene analysis in 9, congenital diarrhea panel in 3, immune deficiency panel in 1 and whole-exome sequencing in 3 patients). Genetic diagnosis was achieved in 14 of 16 patients (87.5%) with therapeutic consequences in 8 of 16 patients (50%). During the followup, 6 patients (25%) died. Conclusion:The percentage of undefined etiology decreased, and treatment of the patients improved with the increased number of genetic testing in patients with CDDs.

Congenital Rare Diseases Causing Persistent Diarrhea in the Newborn: A Single Center Experience

“…While patients with CF and CD55 deficiency were supplemented with MCT-rich formula, TPN was given to 45.2% of our patients whose weight gain could not be established by enteral feeding or whose diarrhea worsened. This rate of TPN varies between 37.5–47 in studies 10 14 . The median duration of TPN in our study was 16.5 days (range 1–150 days).…”

“…The cause of death is often infection. The highest mortality is seen in EPDPs 14 . The mortality rate found in our study was 28.5, and all of our patients with enterocyte differentiation and polarization disorder died.…”

“…Wang et al reported CGGM to be most frequently found in Saudi Arabia, Turkey and United States of America 13 . In the case study of Murat et al, which included only newborns, the most common disease group was digestive, absorption, and transport disorders of nutrients and electrolytes 14 . In our case series, carbohydrate malabsorption disorders were the most common (12/31, 38.7%) among CDDs.…”

“…The disease is often associated with systemic disease and multiorgan involvement 4 . The rate of intestinal immune system disease has been reported between 0–24 months, is 2.8–25 10 14 15 . In our study, this rate was 9.6%, and it was the second most common CDD.…”