Isolated congenital enterokinase deficiency. Recent findings and review of the literature

Fayez K Ghishan, P. C. Lee, Emanuel Lebenthal, Philip Johnson, Charles A. Bradley, Harry L. Greene

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

We report a 13-mo-old patient with isolated congenital enterokinase deficiency and review the clinical features, diagnostic approach, and management of all 8 reported patients. Our patient presented with failure to thrive, diarrhea, and hypoproteinemia since birth. A normal sweat chloride with small intestinal histology, and nondetectable trypsin activity in the duodenal fluid should alert the physician to the possibility of isolated enterokinase deficiency. All reprted patients, including our own, responded favorably to pancreatic enzyme replacement. In vitro studies of the small intestinal mucosal biopsy specimen suggest that enterokinase deficiency at least in part is due to altered enzymes with low enterokinase activity.

Original languageEnglish (US)
Pages (from-to)727-731
Number of pages5
JournalGastroenterology
Volume85
Issue number3
StatePublished - 1983
Externally publishedYes

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Enteropeptidase
Hypoproteinemia
Failure to Thrive
Sweat
Enzymes
Trypsin
Chlorides
Diarrhea
Histology
Parturition
Physicians
Biopsy
Enterokinase Deficiency
In Vitro Techniques

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Ghishan, F. K., Lee, P. C., Lebenthal, E., Johnson, P., Bradley, C. A., & Greene, H. L. (1983). Isolated congenital enterokinase deficiency. Recent findings and review of the literature. Gastroenterology, 85(3), 727-731.

Isolated congenital enterokinase deficiency. Recent findings and review of the literature. / Ghishan, Fayez K; Lee, P. C.; Lebenthal, Emanuel; Johnson, Philip; Bradley, Charles A.; Greene, Harry L.

In: Gastroenterology, Vol. 85, No. 3, 1983, p. 727-731.

Research output: Contribution to journalArticle

Ghishan, FK, Lee, PC, Lebenthal, E, Johnson, P, Bradley, CA & Greene, HL 1983, 'Isolated congenital enterokinase deficiency. Recent findings and review of the literature', Gastroenterology, vol. 85, no. 3, pp. 727-731.
Ghishan FK, Lee PC, Lebenthal E, Johnson P, Bradley CA, Greene HL. Isolated congenital enterokinase deficiency. Recent findings and review of the literature. Gastroenterology. 1983;85(3):727-731.
Ghishan, Fayez K ; Lee, P. C. ; Lebenthal, Emanuel ; Johnson, Philip ; Bradley, Charles A. ; Greene, Harry L. / Isolated congenital enterokinase deficiency. Recent findings and review of the literature. In: Gastroenterology. 1983 ; Vol. 85, No. 3. pp. 727-731.
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