title: [Congenital diarrhoea].
abstract: Congenital diarrhoea of heterogenic etiology is a rare cause of chronic diarrhoea. Characteristic features are: onset in the first weeks of life, life-threatening severe dehydratation and electrolyte disorders leading to a necessity of long-term parenteral nutrition. The clinical onset may be delayed and the degree of diarrhoea may be modest, making the diagnosis difficult. The main causes of congenital diarrhoea such as intestine electrolytes, carbohydrates, lipid and protein transport disorders and congenital enzymatic deficiencies, enterocyte polarization disorders, hormonal, immunological, metabolic, genetic and congenital anatomic disorders are presented in the paper. Some of them, such as: microvillus inclusion disease, tufting enteropathy, intestinal anedocrynosis, IPEX syndrome (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) have been described recently. One of the basic investigations, when congenital diarrhea is suspected, is general examination of the stool, its electrolyte concentration and serum electrolytes and blood gas analysis. Often, small bowel biopsy with histological examination (with the use of electronic microscopy and PAS staining) is indicated. In some cases molecular examination is possible and indicated. In differential diagnosis other, more frequent causes of chronic diarrhea of infancy, have to be excluded. In most of the cases of congenital diarrhoea there is no casual treatment available - usually long-term parenteral nutrition is necessary.
authors.affiliation: Klinika Pediatrii i Żywienia, Instytut Pomnik - Centrum Zdrowia Dziecka w Warszawie, Al. Dzieci Polskich 20, 04-730 Warszawa. p.buda@czd.pl
authors.forename: Piotr
authors.initials: P
authors.lastname: Buda
authors.forename: Joanna
authors.initials: J
authors.lastname: Friedman-Gruszczyńska
authors.forename: Janusz
authors.initials: J
authors.lastname: Książyk
mesh_terms: D001327:Autoimmune Diseases / Q000151:congenital; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis; D003968:Diarrhea, Infantile / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D007414:Intestinal Neoplasms / Q000150:complications / Q000175:diagnosis; D007422:Intestines / Q000002:abnormalities; D008286:Malabsorption Syndromes / Q000150:complications / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis; D010289:Parenteral Nutrition, Total