Allogeneic hematopoietic stem cell transplantation in a case of Krabbe disease
2020
: 患儿 男,1岁6月龄,因"低热10个月余"就诊。临床表现为间断性发热,伴喂养困难、呕吐、易哭闹,基因检测发现半乳糖脑苷脂酶(GALC)基因复合杂合突变,即外显子5 c.452G>A(p.W151X,535)杂合突变和外显子16 c.1901T>C(p.L634S)杂合突变,进一步查白细胞中GALC活性显著降低,确诊为Krabbe病,并予异基因造血干细胞移植治疗成功。.
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