Syndromic diarrhoea (Q43396): Difference between revisions

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Diarreia sindrômica, também conhecida como diarreia fenotípica ou síndrome trico-hepato-entérica, é uma enteropatia congênita que se apresenta com início precoce de diarreia grave exigindo uso de nutrição parenteral (NP), associada a dismorfismo facial, cabelo lanoso e pouco pigmentado, e doença hepática, com fibrose ou cirrose extensa, em cerca de metade dos pacientes.
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Syndromic diarrhoea (SD), also known as phenotypic diarrhoea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhoea requiring parenteral nutrition (PN), associated with facial dysmorphism, woolly and poorly pigmented hair and liver disease, with extensive fibrosis or cirrhosis, in about half of the patients.

Revision as of 10:23, 13 August 2026

Syndromic diarrhoea (SD), also known as phenotypic diarrhoea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhoea requiring parenteral nutrition (PN), associated with facial dysmorphism, woolly and poorly pigmented hair and liver disease, with extensive fibrosis or cirrhosis, in about half of the patients.
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    Syndromic diarrhoea
    Syndromic diarrhoea (SD), also known as phenotypic diarrhoea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhoea requiring parenteral nutrition (PN), associated with facial dysmorphism, woolly and poorly pigmented hair and liver disease, with extensive fibrosis or cirrhosis, in about half of the patients.

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