Chen Tong, Song Jia, Xing Limin, Chen Jin, Dong Xifeng, Li Lijuan, Yang Junfeng, Liu Wentian, Shao Zonghong, Fu Rong
Department of Hematology, Tianjin Key Laboratory of Bone Marrow Failure and Malignant Hemopoietic Clone Control, Tianjin Medical University General Hospital, Tianjin, China.
Department of Neurology, Institute of Neurology, Tianjin Medical University General Hospital, Tianjin, China.
Ann Hematol. 2025 Apr 21. doi: 10.1007/s00277-025-06370-6.
Severe aplastic anemia is a life-threatening ineffective hematopoiesis, arising from inherited or acquired traits. Wilson disease is a rare congenital metabolic disorder with copper accumulation. Here we report a rare case of a 15-year-old boy, who presented with bone marrow failure. Whole exome sequencing revealed several gene mutations in ATP7B and TERT. Based on the phenotypes, telomere lengths and pedigree of his family, the patient was diagnosed with severe aplastic anemia accompanied by Wilson disease. Allogeneic hematopoietic stem cell transplantation and anti-copper therapy helped him achieve transfusion independence and restore relatively normal copper metabolism. We discussed the possible associations between the two rare conditions and optimal management in this situation.
重型再生障碍性贫血是一种由遗传或获得性特征引起的危及生命的无效造血疾病。威尔逊病是一种罕见的先天性代谢紊乱疾病，伴有铜蓄积。在此，我们报告一例罕见病例，一名15岁男孩出现骨髓衰竭。全外显子组测序显示ATP7B和TERT存在多个基因突变。根据患者的表型、端粒长度及其家族谱系，该患者被诊断为重型再生障碍性贫血伴威尔逊病。异基因造血干细胞移植和抗铜治疗帮助他实现了输血独立，并恢复了相对正常的铜代谢。我们讨论了这两种罕见疾病之间可能的关联以及这种情况下的最佳治疗方法。
