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Intestinal enterokinase deficiency. Occurrence in two sibs and age dependency of clinical expression
Insights
Enterokinase deficiency, a rare inherited disorder, causes severe infant malnutrition. Supplementation and natural improvement lead to normal growth in affected children.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Enterokinase is crucial for activating pancreatic enzymes essential for nutrient absorption.
- Congenital enterokinase deficiency is a rare cause of infant malnutrition and malabsorption.
Purpose of the Study:
- To describe the clinical presentation and biochemical findings of two siblings with enterokinase deficiency.
- To investigate the genetic basis and potential for spontaneous improvement in this condition.
Main Methods:
- Analysis of duodenal juice for proteolytic enzyme activity.
- Assessment of duodenal mucosal enterokinase activity and morphology.
- Clinical monitoring of growth and nutritional status.
Main Results:
- Both siblings exhibited absent/low duodenal enterokinase activity and proteolytic enzyme levels.
- Infant males presented with severe failure to thrive, vomiting, diarrhea, edema, hypoproteinemia, and anemia.
- Treatment with pancreatic extract led to rapid weight gain in the male infant.
- Both patients showed spontaneous clinical improvement and normal growth after 6-12 months of age.
Conclusions:
- Enterokinase deficiency is an inherited congenital defect, not secondary to mucosal damage.
- Spontaneous improvement and normal growth are possible in affected children, potentially due to reduced protein requirements.
- Early diagnosis and management are crucial for preventing severe malnutrition and developmental delay.
Abstract:
Intestinal enterokinase deficiency in 2 sibs in described. A boy failed to gain weight and had vomiting, diarrhoea, oedema, hypoproteinaemia, and anaemia in early infancy. His duodenal juice contained very low or absent proteolytic enzyme activity, which increased markedly after addition of enterokinase. He was treated with pancreatic extract and gained weight rapidly. At 44 months of age he is normal, apart from some development delay, and no longer needs pancreatic extract. His older sister, who had had similar symptoms in early infancy but then grew normally, had the same abnormality in her duodenal juice when seen at 4 years of age. Enterokinase activity was virtually absent in the duodenal mucosa of both patients. Mucosal morphology was normal. The findings suggest that enterokinase deficiency is an inherited congenital defect and not the result of mucosal damage. Affected patients may show spontaneous improvement and normal growth after the age of 6 to 12 months. This phenomenon may be related to the decreasing growth volocity during the first 2 years of life and the concimitant decrease in protein requirements per unit bodyweight.