Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.21.4 (trypsin)
 42,187 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 reported 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.
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PMID:Isolated congenital enterokinase deficiency. Recent findings and review of the literature. 634 1

In a 42-month-old girl a duplicated 17p chromosome anomaly was identified by trypsin-Giemsa banding techniques. The clinical findings are compared with those of previous case reports. Common phenotypics changes include failure to thrive; hypoplastic, apparently low-set ears; micrognathia; flexion abnormalities of fingers; and foot abnormalities.
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PMID:Brief clinical report: the dup(17p) syndrome. 708 Dec 95

Enterokinase is a glycoprotein and is now designated enteropeptidase (E.C.3.4.4.8.). It is present in the duodenal and jejunal mucosa. Pancreatic proteolytic enzymes are secreted as proenzymes. Enterokinase converts trypsinogen to trypsin in the duodenal lumen. Duodenopancreatic reflux of duodenal enterokinase may be important in the pathogenesis of experimental and clinical acute pancreatitis. Congenital enterokinase deficiency is a distinct clinical entity characterized by diarrhea, failure to thrive, hypoproteinemia, and edema. Acquired enterokinase deficiency may occur in some diffuse small bowel diseases. Steatorrhea of celiac spruce may be due partly to the fact that deficiency of secretin and cholecystokinin may interfere with the action of enterokinase. The interrelationship between secretin, cholecystokinin, enterokinase, and bile salts is not completely understood.
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PMID:Enterokinase. 820 33

The benefits of early treatment of nutritional and respiratory problems in the CF infant and of genetic counselling for the parents are widely recognized. However, clinical diagnosis of CF is often delayed despite early onset of symptoms and the usefulness of neonatal population screening as a preventive measure is still under debate. This study analyses the clinical history of CF patients diagnosed exclusively on the basis of positive neonatal screening tests with the aim of identifying the earliest markers of the disease. We studied 103 CF infants born in north-east Italy, diagnosed following neonatal screening: assay of immunoreactive trypsin (IRT) from a heel-prick blood sample followed by a measurement of meconium lactase in cases with raised IRT. Diagnosis was confirmed by sweat test at an average age of 39 days. Eighty-one patients (79%) had symptoms strongly suggestive of CF at diagnosis, and signs and/or symptoms of pancreatic insufficiency were present in 16 of the remaining 22 cases. The most frequent symptom was growth failure (69% of infants) and of these, 44% weighed the same as at birth or less. Pancreatic insufficiency was confirmed by the low level of faecal chymotrypsin found in 85% of cases. IRT was elevated in all cases. CF had not been suspected in any symptomatic infant, although most of the infants had been monitored by a paediatrician. In conclusion, most infants with CF diagnosed by neonatal screening are already symptomatic in the first six weeks of life and the most frequent symptom is failure to thrive; pancreatic insufficiency was already present in most cases. In areas without CF neonatal screening programs, the disease should be excluded by differential diagnosis in all cases with growth failure notwithstanding adequate caloric intake in the first months of life. The high sensitivity, low cost and simple execution of IRT and fecal chymotrypsin tests make them an ideal first step in suspect cases before proceeding to the sweat test, often performed late because of limited availability.
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PMID:Failure to thrive: the earliest feature of cystic fibrosis in infants diagnosed by neonatal screening. 940 6

Fifteen pediatric patients undergoing surgery for annular pancreas from 1984 to 1996 were analyzed. Vomiting was the most common presenting symptom. Twelve patients (80%) had associated anomalies including malrotation (40%), intrinsic duodenal obstruction (33%), Down syndrome (27%) and duodenal bands (27%). Their ages at operation were between 5 hours and 8.5 years, with a median of 4 days. Surgical treatment included duodenojejunostomy in nine, duodenoduodenostomy in five and duodenotomy with duodenoplasty in one. The mean duration for reestablishment of bowel transit was 17.9 days, with 22.8 days for duodenojejunostomy and 12.3 days for duodenoduodenostomy. All cases received postoperative follow-up, but only 11 of them were long-term followed until April 1997, with a duration ranging from 1 year and 2 months to 11 years, with a median of 7 years and 5 months. The survival was 100%, but 12 cases (80%) developed postoperative complications including cholestatic jaundice (53%), upper gastrointestinal motility disorder (47%), failure to thrive (40%) and chronic diarrhea (33%). Annular pancreas divisum was noted in one case with chronic relapsing pancreatitis. At the end of follow-up (April 1997), when final ages ranged from 1 year and 2 months to 18 years and 9 months with a median of 7 years and 5 months, there were still problems: steatorrhea in 1, diarrhea after fatty diet in 3, malnutrition in 4, failure to thrive in 3 and lower concentration of stool trypsin in 3 cases. In conclusion, close long-term follow-up is essential for infants treated for annular pancreas because many of them can be expected to develop complications, even if the initial postoperative period is uncomplicated and survival is excellent.
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PMID:A follow-up study of annular pancreas in infants and children. 959 96

Enteropeptidase, a type II transmembrane serine protease, is localized to the brush border of the duodenal and jejunal mucosa. It is synthesized as a zymogen (proenteropeptidase) that requires activation by another protease, either trypsin or possibly duodenase. Active enteropeptidase then converts the pancreatic precursor, trypsinogen, to trypsin by cleavage of the specific trypsinogen activation peptide, Asp-Asp-Asp-Asp-Lys- Ile that is highly conserved in vertebrates. Trypsin, in turn, activates other digestive zymogens such as chymotrypsinogen, proelastase, procarboxypeptidase and prolipase in the lumen of the gut. The important biological function of enteropeptidase is highlighted by the manifestation of severe diarrhea, failure to thrive, hypoproteinemia and edema as a result of congenital deficiency of enteropeptidase activity in the gut. Conversely, duodenopancreatic reflux of proteolytically active enteropeptidase may cause acute and chronic pancreatitis.
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PMID:Enteropeptidase, a type II transmembrane serine protease. 1948 41