Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge.
Best Pract Res Clin Gastroenterol
; 30(2): 187-211, 2016 Apr.
Article
em En
| MEDLINE
| ID: mdl-27086885
ABSTRACT
Congenital diarrhoeal disorders are a heterogeneous group of inherited malabsorptive or secretory diseases typically appearing in the first weeks of life, which may be triggered by the introduction of distinct nutrients. However, they may also be unrecognised for a while and triggered by exogenous factors later on. In principle, they can be clinically classified as osmotic, secretory or inflammatory diarrhoea. In recent years the disease-causing molecular defects of these congenital disorders have been identified. According to the underlying pathophysiology they can be classified into four main groups 1) Defects of digestion, absorption and transport of nutrients or electrolytes 2) Defects of absorptive enterocyte differentiation or polarisation 3) Defects of the enteroendocrine cells 4) Defects of the immune system affecting the intestine. Here, we describe the clinical presentation of congenital intestinal diarrhoeal diseases, the diagnostic work-up and specific treatment aspects.
Palavras-chave
Absorption and transport of nutrients; Congenital diarrhoeal disorders; Defects of digestion; Defects of enterocyte differentiation or polarisation; Defects of enteroendocrine cells; Defects of the intestinal immune system; Inflammatory diarrhoea; Malabsorptive diarrhoea; Osmotic diarrhoea; Secretory diarrhoea
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Contexto em Saúde:
3_ND
Problema de saúde:
3_diarrhea
/
3_neglected_diseases
Assunto principal:
Diarreia
/
Gastroenteropatias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Best Pract Res Clin Gastroenterol
Assunto da revista:
GASTROENTEROLOGIA
Ano de publicação:
2016
Tipo de documento:
Article