Duodenase, enteropeptidase (enterokinase) deficiency

Congenital enterokinase deficiency has been described, as well as transient enzyme deficiency in extremely premature infants. As a result of enterokinase deficiency, the conversion of trypsinogen to trypsin is disrupted, which results in protein breakdown in the small intestine. In duodenal pathology, duodenase deficiency is also possible, leading to peptidase deficiency.

With congenital enterokinase deficiency, symptoms of the disease are noted from birth. The child has frequent loose stools, signs of protein deficiency increase. With significant hypoproteinemia, edema syndrome occurs, and hypotrophy develops.

ICD-10 code

K90.4. Malabsorption due to intolerance, not elsewhere classified.

Diagnostics

Diagnosis is based on determination of duodenase and enteropeptidase activity in biopsy of small intestinal mucosa, duodenal contents (in mucosal swabs). Differential diagnosis is performed with other watery diarrhea; the clinical picture of trypsinogen deficiency is most similar to enterokinase deficiency.

Treatment

In case of edematous syndrome associated with protein deficiency, parenteral administration of albumin is indicated. The protein content in the diet is increased with simultaneous administration of enzyme preparations. The use of enzyme preparations containing proteases (Mezim-forte, Creon) is mandatory.

Forecast

With timely diagnosis and correction, the prognosis is favorable.

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