两兄弟患孤立性脂肪酶和辅脂肪酶缺乏症。
Isolated lipase and colipase deficiency in two brothers.
作者信息
Ligumsky M, Granot E, Branski D, Stankiewicz H, Goldstein R
机构信息
Department of Gastroenterology, Hadassah University Hospital, Jerusalem.
出版信息
Gut. 1990 Dec;31(12):1416-8. doi: 10.1136/gut.31.12.1416.
Abstract
Two brothers of Arab origin, aged 15 and 10 years, with isolated congenital lipase and colipase deficiency are described. Both were normally developed with a history of passing greasy stools since early infancy. Both have remarkable steatorrhoea and low serum carotene and vitamin E concentrations. After exocrine pancreatic stimulation, lipase and colipase activities in the duodenal fluid were almost completely absent, while amylase trypsin, bile salt, and pH values were normal. No other aetiology for exocrine pancreatic insufficiency was found. This is the first report of congenital combined lipase and colipase deficiency in two brothers.
摘要
本文描述了两名阿拉伯裔兄弟，年龄分别为15岁和10岁，患有单纯先天性脂肪酶和辅脂酶缺乏症。两人发育正常，自婴儿早期就有排出油腻粪便的病史。两人均有明显的脂肪泻，血清胡萝卜素和维生素E浓度较低。外分泌性胰腺刺激后，十二指肠液中的脂肪酶和辅脂酶活性几乎完全缺失，而淀粉酶、胰蛋白酶、胆盐和pH值均正常。未发现外分泌性胰腺功能不全的其他病因。这是关于两名兄弟先天性脂肪酶和辅脂酶联合缺乏的首例报告。
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[FLUORIMETRIC DETERMINATION OF TRYPSIN].[荧光法测定胰蛋白酶]
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