Tam P K
Department of Surgery, University of Hong Kong, Queen Mary Hospital.
J Pediatr Gastroenterol Nutr. 1987 Nov-Dec;6(6):904-7. doi: 10.1097/00005176-198711000-00014.
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.
为了明确儿童十二指肠溃疡（DU）发病机制中可能涉及的遗传因素，我们对14例患者及其父母测定了血清胃蛋白酶原I浓度。同时研究了65名正常受试者以确定与年龄相关的正常值。14例患者中有6例、28例父母中有13例出现高胃蛋白酶原血症。高胃蛋白酶原血症患者的父母总是高胃蛋白酶原血症患者，6例中有4例父母双方均受影响。高胃蛋白酶原血症的父母（13例中有10例）通常但并非总是生育高胃蛋白酶原血症患者。大多数高胃蛋白酶原血症的父母（13例中有11例）无症状。我们的研究结果表明，近半数患者群体中儿童DU易感性存在遗传基础（高胃蛋白酶原血症），其遗传方式可能为常染色体显性遗传且外显不全。此外，胃蛋白酶原正常血症家族的存在表明儿童DU是一种异质性疾病而非单一疾病。在胃蛋白酶原正常血症亚组中也存在较高的DU家族发病率（8例中有4例），但这里是遗传因素还是社会环境因素起作用，需要通过其他标志物的研究来阐明。
