[Allogeneic hematopoietic stem cell transplantation in a case of Krabbe disease]

Y H Luo; M Q Qin; X T Ren; B Wang; Y Yan; K Wang; T Y Wang; G H Zhu

doi:10.3760/cma.j.cn112140-20190926-00618

[Allogeneic hematopoietic stem cell transplantation in a case of Krabbe disease]

Zhonghua Er Ke Za Zhi. 2020 May 2;58(5):420-422. doi: 10.3760/cma.j.cn112140-20190926-00618.

[Article in Chinese]

Authors

Y H Luo¹, M Q Qin¹, X T Ren², B Wang¹, Y Yan¹, K Wang¹, T Y Wang¹, G H Zhu¹

Affiliations

¹ Hematology Oncology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing 100045, China.
² Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

PMID: 32392961
DOI: 10.3760/cma.j.cn112140-20190926-00618

Abstract

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。.

Publication types

Case Reports

MeSH terms

Hematopoietic Stem Cell Transplantation*
Humans
Leukodystrophy, Globoid Cell / therapy*