Early onset congenital diarrheas; single center experience

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ÇAKIR M., Sag E., GÜVEN B., Akbulut U. E., İSSİ F., ÇEBİ A. H., ...More

PEDIATRICS AND NEONATOLOGY, vol.62, no.6, pp.612-619, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 6
  • Publication Date: 2021
  • Doi Number: 10.1016/j.pedneo.2021.05.024
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Biotechnology Research Abstracts, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, Directory of Open Access Journals
  • Page Numbers: pp.612-619
  • Keywords: congenitaldiarrheal disorders, genetics, mutation, panel sequencing, whole-exome sequencing, DISORDERS, DEFICIENCY, FEATURES, CHILDREN, INFANTS
  • Karadeniz Technical University Affiliated: Yes


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 = 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 = 11, 45.8%) and defects in intestinal immune-related homeostasis (IIH) (n = 6, 25%). Fat malabsorption (n = 6) was the leading cause of defects in DATN. Extra intestinal 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. Copyright (c) 2021, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/ by-nc-nd/4.0/).