Hadorn B, Haworth J C, Gourley B, Prasad A, Troesch V
Arch Dis Child. 1975 Apr;50(4):277-82. doi: 10.1136/adc.50.4.277.
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.
本文描述了2名同胞患有肠激酶缺乏症。一名男婴在婴儿早期体重不增，伴有呕吐、腹泻、水肿、低蛋白血症和贫血。其十二指肠液中蛋白水解酶活性极低或缺乏，加入肠激酶后活性显著增加。他接受了胰酶提取物治疗，体重迅速增加。在44个月大时，除了有些发育迟缓外，他一切正常，不再需要胰酶提取物。他的姐姐在婴儿早期也有类似症状，但后来生长正常，在4岁时十二指肠液也有同样的异常。两名患者的十二指肠黏膜中几乎都没有肠激酶活性。黏膜形态正常。这些发现表明，肠激酶缺乏是一种遗传性先天性缺陷，而非黏膜损伤的结果。受影响的患者在6至12个月龄后可能会自发改善并正常生长。这种现象可能与生命最初2年生长速度下降以及单位体重蛋白质需求相应减少有关。
