Abstract
This chapter reviews the major disorders that result in chronic diarrhea and malabsorption in children, their major features on intestinal biopsy and surgical specimens, their clinical presentation, and their genetic correlation, when known. These disorders can be grouped into inherited disorders of intestinal transport, congenital defects of intestinal epithelial differentiation (such as microvillus inclusion disease), disorders of immunomodulation such as autoimmune enteropathies, and the closely linked and ever-expanding group of disorders associated with very early onset inflammatory bowel disease. Also included are necrotizing enterocolitis because of its relative frequency and enormous clinical consequences, and lymphangiectasia, which can result in protein-losing enteropathy. Finally, selected metabolic and neoplastic disorders that may also cause chronic diarrhea and malabsorption are discussed and illustrated.
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