Background info - An infant presents with constant diarrhea, failure to thrive (

Question

Background info - An infant presents with constant diarrhea, failure to thrive (not growing and not gaining weight appropriately), and generalized edema. Blood test shows that the infant has hypoproteinemia (low protein levels in the blood). A sample of duodenal juice and the duodenal mucosa indicates that the infant has low enterokinase activity and low trypsin activity.If enterokinase is added to the duodenal juice sample, trypsin activity returns to the normal range. Based on the tests, the infant is diagnosed with a very rare disorder: enterokinase deficiency.

QUESTION - Explain the process by which diarrhea develops in this infant.  (150 words or less)

Explanation / Answer

Because protein digestion is expected to be largely dependent on enteropeptidase activity, enterokinase deficiency causes protein malabsorption during early infancy.

severe chronic diarrhea represents the main clinical manifestation, while in others, diarrhea is only a component of a more complex multiorgan or systemic disease. In the vast majority of cases appropriate therapy must be started immediately to prevent dehydration and long term, and sometimes life-threatening, complications.We recently proposed a CDDs classification in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarization; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response

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