EVALUATION OF THE CHILD WITH MALABSORPTION
The assimilation of ingested nutrients involves a complex integrated process of digestion and absorption with subsequent transport of the breakdown products across the intestinal mucosa into the systemic circulation. Normal digestion and absorption are discussed in Chapter 376. The term malabsorption is broadly used to characterize abnormalities of both digestion and absorption. The schema in Table 403-1 lists the major pathogenic mechanisms of various specific malabsorptive disorders that generally are due to disorders in luminal digestion, mucosal function, or lymphatic transport. Malabsorption may involve multiple nutrients (as occurs with celiac disease or pancreatic insufficiency) or only a single molecule (as found in isolated glucose-galactose malabsorption or vitamin B12 malabsorption). Defects may be congenital, with onset of symptoms shortly after birth, or acquired, when the age of onset of symptoms is variable.
Table 403-1MECHANISMS OF MALDIGESTION AND MALABSORPTION |Favorite Table|Download (.pdf) Table 403-1 MECHANISMS OF MALDIGESTION AND MALABSORPTION
|Luminal Phase || |
|Enzyme deficiencies || |
|Pancreatic enzymes ||Cystic fibrosis, Shwachman syndrome, Johanson-Blizzard syndrome, congenital enzyme deficiencies |
|Disaccharidase enzymes ||Congenital deficiencies, acquired deficiencies secondary to intestinal mucosal damage |
|Enzyme inactivation ||Acid hypersecretory states (Zollinger-Ellison syndrome) |
|Solubilization deficiencies |
|Impaired bile secretion ||Cirrhosis, cholestasis, biliary atresia, bile duct obstruction |
|Bile salt deconjugation ||Intestinal bacterial overgrowth, Zollinger-Ellison syndrome |
|Increased bile salt loss ||Distal ileal disease/resection, bile salt transporter defects |
|Mucosal Phase |
|Epithelial transport defects |
|Mucosal structural damage ||Inflammatory disease (infectious enteropathies, Crohn disease, celiac disease, eosinophilic enteropathy, congenital immune disorders, HIV, autoimmune enteropathy) |
|Enterocyte transport defects ||Congenital glucose/galactose malabsorption, amino acid transport defects, vitamin B12 and folate transport defects |
|Enterocyte-processing defects ||Abetalipoproteinemia, chylomicron retention disease |
|Extraintestinal Phase || |
|Lymphatic disorders ||Congenital lymphangiectasia, lymphatic obstruction due to cardiac, infiltrative, or inflammatory disease |
|Vascular disorders ||Intestinal ischemia, vasculidities |
The nutritional consequences of malabsorption vary from none or mild to severe, with malnutrition and even death. Abnormalities that impair absorption tend to have greater nutritional consequences than those impairing digestion. In general, growth is affected, manifested first by poor weight gain or weight loss and subsequently by linear growth retardation. Additional consequences may involve specific nutrients causing conditions such as rickets, osteoporosis, or tetany (vitamin D and calcium deficiency); coagulation disturbances (vitamin K deficiency); or anemia (iron, folate, or vitamin B12 deficiency).
The evaluation of children with chronic diarrhea is discussed in Chapter 380. The most prominent clinical manifestation of children with disorders of digestion or absorption is diarrhea, except in those conditions involving malabsorption of a single molecule such as vitamin B12. Diarrhea is often accompanied by symptoms of abdominal distension, excessive flatulence, and growth failure in the older infant, toddler, or child. In the newborn or in early infancy, growth failure may not be evident and diarrhea may lead to dehydration. Very watery stools may soak into the diaper ...