每日一题_2023.08.19

An infant with severe jaundice that is not corrected by phototherapy is in danger of developing kernicterus. This can occur in infants with Crigler-Najjar syndrome, a genetic disorder in which there is a near-complete deficiency of glucuronyl transferase. Which of the following laboratory findings would be expected in blood tests in an infant with Crigler-Najjar syndrome?

患有严重黄疸的婴儿如果不经光疗纠正，就有发展为核黄疸的危险。这可发生于患Crigler-Najjar综合征的婴儿，这是一种葡萄糖醛酸基转移酶几乎完全缺乏的遗传病。Crigler-Najjar综合征婴儿的血液检查应出现下列哪项实验室检查结果?

(A) Decreased hematocrit血细胞比容降低

(B) Decreased indirect bilirubin 间接胆红素降低

(C) Increased direct bilirubin 直接胆红素升高

(D) Increased indirect bilirubin 间接胆红素升高

(E) Increased reticulocyte count网织红细胞计数增加

答案解析：

在Crigler-Najjar综合征中，缺乏葡萄糖醛酸基转移酶导致不能结合胆红素，从而导致非结合性高胆红素血症(高间接胆红素)。随着胆红素的累积，黄疸会变得更加严重，高水平胆红素会导致脑损伤。两种类型已被确定:1型(常染色体隐性)和2型(常染色体显性)。部分葡糖醛酸基转移酶缺乏症见于Gilbert综合征。

正确答案：D