Intestinal Enterokinase Deficiency Clinical Presentation

Updated: Nov 28, 2017
  • Author: Agostino Nocerino, MD, PhD; Chief Editor: Carmen Cuffari, MD  more...
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Presentation

History

Because protein digestion is expected to be largely dependent on enteropeptidase activity, enterokinase deficiency causes protein malabsorption during early infancy. However, for unknown reasons, protein digestion improves with time and can be adequate in the adult. In adulthood, patients have normal body weight and no GI symptoms, even in the absence of pancreatic enzyme supplements.

Almost all patients present at birth with diarrhea and failure to thrive.

All patients exhibit hypoproteinemia.

Vomiting has been reported in approximately 50% of patients.

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Physical

Affected children present with a malabsorption syndrome characterized by muscle wasting, failure to thrive, and hypoproteinemia (eg, kwashiorkor). This malabsorption syndrome is generalized during the disease's early phase and includes steatorrhea, but these changes are probably secondary to protein malnutrition.

Generalized edema occurs in one half of affected patients.

Severe anemia, which is common, is presumably secondary to protein malabsorption and vitamin E deficiency.

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Causes

Identification of enterokinase deficiency in 2 pairs of siblings has suggested that the condition is inherited. In these families, Holzinger et al identified mutations in the serine protease-7 gene (PRSS7 gene), which encodes proenterokinase. Therefore, enterokinase deficiency can be considered to be caused by a mutation in the PRSS7 gene. [6]

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