Intestinal Enterokinase Deficiency

Intestinal Enterokinase Deficiency

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Only 13 confirmed cases of primary enterokinase deficiency have been reported since the condition was first described in 1969. [1] Secondary enterokinase deficiency has been reported in patients with partial or total villous atrophy; however, enterokinase activity is usually not significantly affected in these conditions. A previously described patient developed celiac disease at age 25 years, but enterokinase levels remained low after normalization of intestinal mucosa with gluten-free diet. [2] Enterokinase, also known as enteropeptidase, is a key enzyme for intestinal digestion of proteins. Therefore, enterokinase deficiency causes severe protein malabsorption with poor growth and development.

Enterokinase is synthesized by the enterocytes of the proximal small intestine and can be found in the brush border membrane and as a soluble form in intestinal fluid. Human enterokinase appears to be a disulfide-linked heterodimer, composed of a 784 amino acid heavy chain and a 235 amino acid light chain, derived by processing of the single-chain precursor. According to the deduced amino acid sequence, enteropeptidase is a serine protease. The active 2-chain enteropeptidase is derived from the single-chain precursor proenteropeptidase. It is activated by duodenase, a serine protease expressed in the duodenum. [3]

Duodenopancreatic reflux of the duodenal contents could result in trypsinogen activation by enteropeptidase within the pancreas, followed by acute pancreatitis. [4] Beta-site APP-cleaving enzyme1 (BACE1), a protease that has been closely linked to the pathogenesis of Alzheimer disease but highly expressed in pancreatic acinar cells, could possibly protect the pancreas from premature trypsinogen activation. [5]

Enterokinase is secreted by the mucosa of the small intestine. It is absent in crypts but significant in villous enterocytes and maximal in the upper half of the villi, especially on the brush border. The enzyme catalyzes the conversion of trypsinogen to its active product, trypsin. In turn, trypsin activates the other pancreatic proteolytic zymogens (chymotrypsinogen, procarboxypeptidase, proelastase) to chymotrypsin, carboxypeptidase, and elastase.

Enterokinase deficiency seriously impairs protein absorption. Proteinase-activated receptor 2 is present at the apical and basolateral membrane of enterocytes; activation of this receptor by trypsin stimulates enterocytes to secrete eicosanoids, which act locally in the intestinal wall to regulate epithelial growth. Therefore, in addition to its purely digestive role, enterokinase localization on the luminal surface of the duodenal villi possibly contributes to enterocyte growth by generating active trypsin on the cell surface.

The human genetic locus appears to be close to the gene for beta-amyloid precursor protein at band 21q.21.2. The human proenteropeptidase gene consists of 25 exons (24 introns) and spans around 88 kb of genomic DNA sequence. [6] Duodenase mutations that result in defective activation of proenteropeptidase may possibly lead to disease, similar to enterokinase deficiency.

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Only 13 cases of primary enterokinase deficiency have been reported. Three additional patients were reported with a similar clinical picture but with unmeasured intestinal enterokinase activity.

Prognosis is good with adequate treatment.

No sex predilection is evident among the few reported cases.

With one reported exception, affected patients present at birth with diarrhea and failure to thrive. [7] That exception was the sister of an affected boy; she was aged 5 months at onset and was diagnosed at age 8 years.

Hadorn B, Tarlow MJ, Lloyd JK, Wolff OH. Intestinal enterokinase deficiency. Lancet. 1969 Apr 19. 1(7599):812-3. [Medline].

Moroz SP, Hadorn B, Rossi TM, Haworth JC. Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidase. Am J Gastroenterol. 2001 Jul. 96(7):2251-4. [Medline].

Lentze M. Congenital diseases of the gastrointestinal tract. Georgian Med News. 2014 May. 46-53. [Medline].

Zheng XL, Kitamoto Y, Sadler JE. Enteropeptidase, a type II transmembrane serine protease. Front Biosci (Elite Ed). 2009 Jun 1. 1:242-9. [Medline].

Hoffmeister A, Dietz G, Zeitschel U, Mössner J, Rossner S, Stahl T. BACE1 is a newly discovered protein secreted by the pancreas which cleaves enteropeptidase in vitro. JOP. 2009 Sep 4. 10(5):501-6. [Medline].

Holzinger A, Maier EM, Buck C, et al. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002 Jan. 70(1):20-5. [Medline]. [Full Text].

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 Sep. 85(3):727-31. [Medline].

Kitamoto Y, Veile RA, Donis-Keller H, Sadler JE. cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen. Biochemistry. 1995 Apr 11. 34(14):4562-8. [Medline].

Domínguez-Muñoz JE. Pancreatic enzyme replacement therapy for pancreatic exocrine insufficiency: when is it indicated, what is the goal and how to do it?. Adv Med Sci. 2011. 56(1):1-5. [Medline].

Domínguez-Muñoz JE, Iglesias-García J, Iglesias-Rey M, Figueiras A, Vilariño-Insua M. Effect of the administration schedule on the therapeutic efficacy of oral pancreatic enzyme supplements in patients with exocrine pancreatic insufficiency: a randomized, three-way crossover study. Aliment Pharmacol Ther. 2005 Apr 15. 21(8):993-1000. [Medline].

Agostino Nocerino, MD, PhD Chief of Pediatric Oncology, Department of Pediatrics, University of Udine, Italy

Agostino Nocerino, MD, PhD is a member of the following medical societies: Italian Society of Pediatric Emergency and Urgent Care Medicine, Italian Society of Pediatric Hematology and Oncology, Italian Society of Pediatrics

Disclosure: Nothing to disclose.

Stefano Guandalini, MD Founder and Medical Director, Celiac Disease Center, Chief, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Chicago Medical Center; Professor, Department of Pediatrics, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago Division of the Biological Sciences, The Pritzker School of Medicine

Stefano Guandalini, MD is a member of the following medical societies: American Gastroenterological Association, European Society for Paediatric Gastroenterology, Hepatology & Nutrition, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, North American Society for the Study of Celiac Disease

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching. for: Abbott Nutritional, Abbvie, speakers’ bureau.

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching. for: Abbott Nutritional, Abbvie, speakers’ bureau.

Hisham Nazer, MBBCh, FRCP, DTM&H Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, University of Jordan Faculty of Medicine, Jordan

Hisham Nazer, MBBCh, FRCP, DTM&H is a member of the following medical societies: American Association for Physician Leadership, Royal College of Paediatrics and Child Health, Royal College of Surgeons in Ireland, Royal Society of Tropical Medicine and Hygiene, Royal College of Physicians and Surgeons of the United Kingdom

Disclosure: Nothing to disclose.

Intestinal Enterokinase Deficiency

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