Insufficiency of duodenase, enteropeptidase (enterokinase)

The congenital deficiency of enterokinase is described, as well as transient insufficiency of the enzyme in deeply premature infants. Due to the deficiency of enterokinase, the translation of trypsinogen into trypsin is disrupted, as a result - the splitting of the protein in the small intestine. With duodenal pathology, a deficiency of duodenase, leading to peptidase deficiency, is also possible.

With congenital deficiency of enterokinase, the symptoms of the disease are noted from birth. The child has a frequent loose stool, signs of protein deficiency increase. With significant hypoproteinemia, there is edematous syndrome, hypotrophy develops.

ICD-10 code

K90.4. Absorption disorders due to intolerance not classified elsewhere.

Diagnostics

Diagnosis is based on determining the activity of duodenase and enteropeptidase in the biopsy specimen of the small intestine mucosa, with duodenal contents (in washings from the mucous membrane). Differential diagnosis is performed with other watery diarrhea; the clinical picture of the deficiency of trypsinogen is most similar to the deficiency of enterokinase.

Treatment

With edematous syndrome associated with protein deficiency, parenteral administration of albumin is indicated. Increase the protein content in the diet with the simultaneous appointment of enzyme preparations. It is necessary to use enzyme preparations containing proteases (mezim-forte creon).

Forecast

With timely diagnosis and correction, the outlook is favorable.

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