Li Yuzhu, Hong Yilei, Shen Yingying, Liu Qi, Chen Ying, Shao Keding, Shen Yiping, Ye Baodong, Wu Dijiong
The First School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
Department of Hematology, The First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, 310006, Zhejiang, People's Republic of China.
Eur J Med Res. 2022 Mar 21;27(1):45. doi: 10.1186/s40001-022-00675-2.
Hepatitis-associated aplastic anemia (HAAA) is a specific type of aplastic anemia, and hematopoietic stem-cell transplantation (HSCT) is recommended as the first-line. Acute rhabdomyolysis (AR) during hematopoietic stem-cell transplantation (HSCT) is a rare, serious complication, with only 10 cases reported in the world so far.
Herein, we present a case of AR developing during HLA-haploidentical HSCT in a 55-year-old man who suffered from HAAA. On day 7 after stem cell transfusion, the patient reported a muscle pull in thigh and complained of muscle swelling, pain and change in urine color. Despite the timely diagnosis (based on the levels of myoglobin and creatine kinase, and muscle MRI findings, etc.) and rapid hydration and alkalization, the situation progressed dramatically, and the patient died of multi-organ failure during the preparation for continuous renal replacement therapy (CRRT). Five days after his death, the whole-exome sequencing result confirmed that the patient had a germline missense mutation in SCN4A I 1545 V and ACTN3 R577X.
AR is a rare but threatening complication during HSCT, especially in cases with kidney dysfunction. The creatine kinase level may not truly and completely reflect the severity and prognosis for cases with localized lesion. We suggest that genetic analysis should be performed for better understanding the pathological changes of AR during HSCT, especially for patients with bone marrow failure.
肝炎相关性再生障碍性贫血（HAAA）是再生障碍性贫血的一种特殊类型，造血干细胞移植（HSCT）被推荐为一线治疗方法。造血干细胞移植（HSCT）期间的急性横纹肌溶解（AR）是一种罕见的严重并发症，目前全世界仅报道了10例。
在此，我们报告一例55岁患HAAA的男性在HLA单倍体相合HSCT期间发生AR的病例。干细胞输注后第7天，患者报告大腿肌肉拉伤，并主诉肌肉肿胀、疼痛和尿液颜色改变。尽管及时诊断（基于肌红蛋白和肌酸激酶水平以及肌肉MRI检查结果等）并迅速进行了水化和碱化治疗，但病情急剧进展，患者在准备进行连续性肾脏替代治疗（CRRT）期间死于多器官功能衰竭。患者死亡5天后，全外显子测序结果证实该患者在SCN4A基因I1545V位点和ACTN3基因R577X位点存在种系错义突变。
AR是HSCT期间一种罕见但具有威胁性的并发症，尤其是在合并肾功能不全的病例中。肌酸激酶水平可能无法真实、全面地反映局限性病变病例中的病情严重程度和预后。我们建议进行基因分析，以便更好地了解HSCT期间AR的病理变化，尤其是对于骨髓衰竭患者。
