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Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I
B Kristiansson1, S Borulf, N Conradi
1Department of Paediatrics, Göteborg University, Sweden.
Insights
Infants with carbohydrate-deficient glycoprotein syndrome type I experience gastrointestinal issues and poor growth. Intestinal and liver inflammation are likely causes, with symptoms often improving over time.
Area of Science:
- Pediatric Gastroenterology
- Metabolic Disorders
- Congenital Disorders
Background:
- Carbohydrate-deficient glycoprotein syndrome type I (CDG-I) in infancy presents with unexplained gastrointestinal symptoms and growth impairment.
- The underlying etiology for these symptoms in CDG-I remains largely unknown.
Purpose of the Study:
- To investigate the cause of gastrointestinal symptoms and growth failure in infants with CDG-I.
- To assess intestinal and liver pathology, and digestive enzyme activity in affected children.
Main Methods:
- Small intestinal and liver biopsies were performed on seven infants.
- Duodenal intubation assessed lipolytic and proteolytic activity; test meals were administered.
- Growth parameters (weight, length-height, head circumference) were regularly monitored.
Main Results:
- Impaired growth from infancy, characterized by poor weight gain and linear growth reduction.
- Dominant symptoms included vomiting and diarrhea; intestinal biopsies showed villous shortening and inflammation in four children.
- All children exhibited liver abnormalities, including steatosis, fibrosis, or cirrhosis, with increased portal inflammation; low lipolytic enzyme activity was noted in most.
Conclusions:
- Intestinal and liver inflammation are implicated as causes of gastrointestinal symptoms in CDG-I.
- Growth failure is likely due to reduced caloric intake and losses from vomiting.
- Spontaneous improvement in growth and gastrointestinal symptoms was observed over time.
Background:
Children with carbohydrate-deficient glycoprotein syndrome type I during infancy have gastrointestinal symptoms and growth impairment, the cause of which is largely unknown.
Methods:
Seven children were investigated with small intestinal biopsy, liver biopsy, duodenal intubation with determination of lipolytic and proteolytic activity, and test meal. Weight, length-height, and head circumference were recorded regularly.
Results:
Growth was affected from early infancy, with an initial low rate of weight gain followed by impaired linear growth. Vomiting and diarrhea were dominant symptoms. Four of seven children had abnormal findings in light microscopic examination of small intestinal biopsy specimens, with short villi and increased inflammatory cells in the stroma, that did not respond to elimination of such food proteins as cow's milk or gluten. Electron microscopic study showed dilatation of smooth endoplasmic reticulum and abnormal inclusions containing lipids. The liver was abnormal in all. Besides steatosis and fibrosis or cirrhosis, there was a remarkable increase of inflammatory cells in portal zones. Activity of lipolytic enzymes in duodenal juice was low, except in one child, who no longer had growth problems or symptoms. Two of six had abnormal proteinolytic activity in duodenal juice. Digestion of triglycerides and absorption were within normal limits, as was the absorption of glucose and xylose.
Conclusions:
Inflammation of small intestine and liver may be the cause of gastrointestinal symptoms. In all likelihood, the growth failure was because of low caloric intake and increased losses related to vomiting. Growth and gastrointestinal symptoms improved spontaneously as time elapsed.