Farooq Qaisar, Saleem Muhammad W, Khan Zakir Ullah, Hadi Niktash
Internal Medicine, Hayatabad Medical Complex Peshawar, Peshawar, PAK.
Cureus. 2020 Dec 7;12(12):e11956. doi: 10.7759/cureus.11956.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare intravascular hemolytic anemia caused by an acquired mutation in the phosphatidylinositol-N-acetylglucosaminyltransferase-subunit-A (PIG-A) gene. This mutation leads to the deficiency of cellular anchors for complement inhibitor proteins cluster of differentiation (CD)55 and CD59, predisposing red blood cells to hemolysis by the complement system. We describe the case of a 28-year-old male who presented to the Medical A Ward, Hayatabad Medical Complex, Peshawar, Pakistan, in August 2017 for anemia workup and was later diagnosed as PNH. Current treatment guidelines recommend the use of eculizumab for treating PNH, but the cost and availability of this treatment is a major limiting factor in our resource-poor setting.
阵发性睡眠性血红蛋白尿症（PNH）是一种罕见的血管内溶血性贫血，由磷脂酰肌醇-N-乙酰葡糖胺基转移酶亚基A（PIG-A）基因的获得性突变引起。这种突变导致补体抑制蛋白分化簇（CD）55和CD59的细胞锚定物缺乏，使红细胞易被补体系统溶血。我们描述了一例28岁男性病例，该患者于2017年8月前往巴基斯坦白沙瓦哈亚塔巴德医疗中心A内科病房进行贫血检查，后来被诊断为PNH。目前的治疗指南推荐使用依库珠单抗治疗PNH，但在我们资源匮乏的环境中，这种治疗的成本和可及性是一个主要限制因素。
