Hemolitic Anemia due to Glucose-6-Phosphate Dehydrogenase Deficiency Burdened by Cholelithiasis: Clinical Case

Olga A. Bludova, Ya. M. Chuyko, Luibov E. Larina
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Abstract

Background. Glucose-6-phosphate dehydrogenase deficiency is one of the most frequent enzyme defects leading to hemolysis. About 2% of Russian Federation population have this pathology. This clinical case demonstrates such complication of this disease as cholelithiasis.Clinical case description. Patient B., 17 years old, is followed up by hematologist for anemia due to glucose6-phosphate dehydrogenase deficiency. Biliary calculi were revealed in 2019. Skin and scleral icterus was noted during examination, as well as soreness in the right hypochondrium during palpation. Magnetic resonance cholangiopancreatography has shown two calculi in the distal parts of the ductus choledochus, gallstones, dilatation of the common hepatic and cystic ducts. Complete blood count: hyperchromic megalocytic anemia. Biochemical blood test: hyperbilirubinemia (mostly direct one) after 2 days of hospitalization. Endoscopic lithoextraction from ductus choledochus was performed. Drug therapy was prescribed. Positive dynamics were mentioned at control tests. The patient was discharged in a satisfactory condition on the 10th day.Conclusion. Adequate diagnosis and adequate management promote favorable disease outcome. 
胆石症所致葡萄糖-6-磷酸脱氢酶缺乏所致溶血性贫血临床一例
背景。葡萄糖-6-磷酸脱氢酶缺乏是导致溶血的最常见的酶缺陷之一。大约2%的俄罗斯联邦人口有这种病理。这个临床病例显示了这种疾病的并发症如胆石症。临床病例描述。患者B, 17岁,血液科医生随访了由于葡萄糖6-磷酸脱氢酶缺乏症引起的贫血。2019年发现胆道结石。检查时发现皮肤和巩膜黄疸,触诊时发现右侧胁肋疼痛。磁共振胆管造影显示胆总管远端两结石,胆结石,肝总管及胆囊管扩张。全血细胞计数:大细胞性贫血。血生化检查:住院2天后高胆红素血症(多为直接一项)。内镜下胆总管取石术。医生开了药物治疗。在对照试验中提到了正动力学。患者于第10天顺利出院。充分的诊断和适当的管理促进良好的疾病预后。
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