Early onset congenital diarrheas; single center experience.
Pediatr Neonatol
; 62(6): 612-619, 2021 11.
Article
en En
| MEDLINE
| ID: mdl-34330684
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 = 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. 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 follow-up, 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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
2_ODS3
/
3_ND
/
4_TD
Problema de salud:
2_enfermedades_transmissibles
/
3_diarrhea
/
3_neglected_diseases
/
4_diarrhoeal_infections
Asunto principal:
Diarrea
/
Enfermedades Intestinales
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Pediatr Neonatol
Año:
2021
Tipo del documento:
Article