Department of Hematology/Oncology, Saint Joseph University Medical Center, Paterson, New Jersey.
Department of Internal Medicine, Saint Michael's Medical Center, New York Medical College, Newark, New Jersey.
Am J Med Sci. 2020 Jul;360(1):72-74. doi: 10.1016/j.amjms.2020.03.018. Epub 2020 Apr 2.
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is an X-linked genetic disorder associated with intravascular hemolysis. Rhabdomyolysis with myoglobinuria in a patient with G6PD deficiency is a very rare manifestation, in fact, to the best of our knowledge, only a few case reports have been published in the literature to date. Herein, we report an unusual presentation of a 33-year-old male with G6PD deficiency with multiple episodes of severe rhabdomyolysis with no significant concurrent hemolysis. This case supports the hypothesis that rhabdomyolysis may be a rare manifestation of G6PD deficiency, though the exact causation still remains unclear.
葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症是一种与血管内溶血相关的 X 连锁遗传疾病。患有 G6PD 缺乏症的患者发生横纹肌溶解伴肌红蛋白尿是一种非常罕见的表现，实际上，据我们所知，迄今为止，文献中仅报道了少数几例病例报告。在此，我们报告了一例不常见的 G6PD 缺乏症患者，该患者 33 岁，男性，多次发生严重的横纹肌溶解症，且无明显的同时性溶血。该病例支持这样一种假说，即横纹肌溶解症可能是 G6PD 缺乏症的一种罕见表现，尽管确切的病因仍不清楚。
