Document Detail


Newer diarrheal syndromes.
MedLine Citation:
PMID:  11132469     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Aetiological diagnosis of protracted diarrhoea remains obscure in as many as 30% of cases despite extensive investigations. A number of newer syndromes have been recognized amongst this "idiopathic group" which includes microvillous inclusion disease, "tufting" enteropathy and epithelial dysplasia, autoimmune enteropathy and "syndromic" immunodeficiency with characteristic facial abnormalities, woolly hair and intractable diarrhea. The molecular basis of some of these syndromes has been reviewed but in only a small series of patients has the functional defect been characterized. If a case is suspected the antenatal history, family history and history of consanguinity should be sought. Extra-intestinal manifestations, presence of gut or other auto-antibodies, together with phenotypic abnormalities should be looked for. Careful light and electron microscopy is done of small bowel biopsies, although microvillous inclusion disease can be usually suspected on PAS staining. Large bowel biopsy may be needed to exclude an unsuspected microscopic colitis. The prognosis of this group of conditions is poor with an overall 50-85% mortality. Although successful gut transplantation has been reported, genetic counselling may be one of the more important aspects of the clinicians' role.
Authors:
A Sawczenko; B K Sandhu
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  66     ISSN:  0019-5456     ISO Abbreviation:  Indian J Pediatr     Publication Date:  1999  
Date Detail:
Created Date:  2000-12-29     Completed Date:  2001-02-01     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  S46-51     Citation Subset:  IM    
Affiliation:
Royal Hospital for Sick Children, St Michael's Hill, Bristol, UK.
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MeSH Terms
Descriptor/Qualifier:
Age Distribution
Autoimmune Diseases / diagnosis,  epidemiology
Child
Child, Preschool
Diarrhea / complications,  diagnosis*,  epidemiology*
Enterocolitis / complications,  diagnosis*,  epidemiology*
Female
Humans
Incidence
India / epidemiology
Infant
Intestinal Mucosa / pathology*
Male
Risk Factors
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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