Document Detail

The molecular basis of intractable diarrhoea of infancy.
MedLine Citation:
PMID:  9448909     Owner:  NLM     Status:  MEDLINE    
The intractable diarrhoeas of infancy present very major problems of clinical management. However, the conceptual importance of these conditions lies in the information that they may provide about normal small-intestinal function in humans: among such infants will be found the human equivalents of the 'knock-out' mice, in which targeted gene disruption allows sometimes unexpected insight into the regulation of intestinal function. The challenge posed by the intractable diarrhoeal syndromes, of working backwards from an apparently common phenotype to probably multiple genotypes, is, however, immense. Very few of these conditions have been described at the genetic level, although the molecular basis of pathogenesis has been better explored in recent years. The two major groups of intractable diarrhoea are due to (1) primary epithelial abnormalities (which usually present within the first few days of life) and (2) immunologically mediated (which generally present after the first few weeks). The high prevalence of autoimmune enteropathy among infantile autoimmune disease, in contrast to adult autoimmunity, is intriguing and may reflect constitutive abnormality of extrathymic lymphocyte maturation. The use of potent immunosuppressive drugs and increasing expertise with parenteral nutrition are improving the outlook of these previously fatal conditions. Viewed globally, however, the pressing problem is to treat effectively the millions of infants who die from severe persistent diarrhoea and wasting, which would certainly not be considered intractable in wealthy countries.
S H Murch
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Baillière's clinical gastroenterology     Volume:  11     ISSN:  0950-3528     ISO Abbreviation:  Baillieres Clin. Gastroenterol.     Publication Date:  1997 Sep 
Date Detail:
Created Date:  1998-03-24     Completed Date:  1998-03-24     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8704786     Medline TA:  Baillieres Clin Gastroenterol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  413-40     Citation Subset:  IM    
University Department of Paediatric Gastroenterology, Royal Free Hospital, Hampstead, London, UK.
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MeSH Terms
Diarrhea, Infantile / immunology,  metabolism*,  pathology*
Disease Models, Animal
Electrolytes / metabolism
Infant, Newborn
Reg. No./Substance:

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