[HTML][HTML] Congenital diarrheal disorders: an updated diagnostic approach
G Terrin, R Tomaiuolo, A Passariello, A Elce… - International journal of …, 2012 - mdpi.com
International journal of molecular sciences, 2012•mdpi.com
Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical
onset early in the life. Infants with these disorders have frequently chronic diarrhea of
sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known
and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on
the basis of the genetic defect, focusing on the significant contribution of molecular analysis
in the complex, multistep diagnostic work-up.
onset early in the life. Infants with these disorders have frequently chronic diarrhea of
sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known
and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on
the basis of the genetic defect, focusing on the significant contribution of molecular analysis
in the complex, multistep diagnostic work-up.
Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.
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