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Serum pepsinogen I in childhood duodenal ulcer
1Department of Surgery, University of Hong Kong, Queen Mary Hospital.
Insights
Genetic factors may predispose children to duodenal ulcers (DU). Hyperpepsinogenemia, a potential indicator, was found in affected children and their parents, suggesting an autosomal dominant inheritance pattern with incomplete penetrance.
Area of Science:
- Genetics
- Pediatrics
- Gastroenterology
Background:
- Childhood duodenal ulcer (DU) pathogenesis is not fully understood.
- Genetic factors are suspected but require further investigation.
Purpose of the Study:
- To investigate the role of genetic factors in childhood DU.
- To examine serum pepsinogen I concentrations as a potential genetic marker.
Main Methods:
- Serum pepsinogen I levels were measured in 14 children with DU and their parents.
- Normal pepsinogen I values were established using 65 age-matched control subjects.
- Familial incidence of hyperpepsinogenemia was analyzed.
Main Results:
- Hyperpepsinogenemia was observed in 6 of 14 patients and 13 of 28 parents.
- Affected children with hyperpepsinogenemia had hyperpepsinogenemic parents.
- Most hyperpepsinogenemic parents were asymptomatic, suggesting incomplete penetrance.
Conclusions:
- A genetic basis, likely autosomal dominant with incomplete penetrance, may predispose individuals to childhood DU.
- The presence of normopepsinogenemic families indicates that childhood DU is a heterogeneous condition.
- Further research is needed to clarify genetic versus socioenvironmental factors in normopepsinogenemic DU families.
Abstract:
To delineate possible genetic factors involved in the pathogenesis of childhood duodenal ulcer (DU), serum pepsinogen I concentrations were measured in 14 patients and their parents. Sixty-five normal subjects were simultaneously studied to determine normal values in relation to age. Hyperpepsinogenemia occurred in six of 14 patients and 13 of 28 parents. Hyperpepsinogenemic patients invariably had hyperpepsinogenemic parents, four of six having both parents affected. Hyperpepsinogenemic parents (10 of 13) usually but not invariably gave birth to hyperpepsinogenemic patients. Most hyperpepsinogenemic parents (11 of 13) were asymptomatic. Our findings suggest a genetic basis (hyperpepsinogenemia) for the predisposition to childhood DU in nearly half the patient population, the inheritance being likely to be autosomal dominant with incomplete penetrance. In addition, the existence of normopepsinogenemic families suggests that childhood DU is a heterogeneous entity and not a single disease. A high familial incidence of DU is also present in the normopepsinogenemic subgroup (four of eight) but whether genetic factors or socioenvironmental factors are responsible here will require elucidation from studies with other markers.