Supplementary Material for: Infantile Pyknocytosis: End-Tidal CO, %Micro-R Measurements, Next-Generation Sequencing, and Transfusion Avoidance with Darbepoetin

Infantile pyknocytosis is a rare, self-limited, hemolytic condition of unknown pathogenesis. It is diagnosed when a neonate with Coombs-negative hemolytic anemia has abundant pyknocytes and a characteristic clinical course after other hemolytic disorders has been excluded. Previous reports suggest that transfusions might be avoidable in this condition by administering recombinant erythropoietin. We cared for a patient with this disorder where we employed novel diagnostics and therapeutics. Despite these, and a good outcome free of transfusions, we continue to consider the condition to be idiopathic.

婴儿固缩红细胞增多症（Infantile pyknocytosis）是一种病因未明的罕见自限性溶血性疾病。当排除其他溶血性疾病后，若库姆斯试验（Coombs test）阴性的溶血性贫血新生儿体内存在大量固缩红细胞，且具有特征性临床病程，则可确诊本病。既往研究显示，对该病患者给予重组促红细胞生成素（recombinant erythropoietin）治疗，或可规避输血需求。我们收治了1例该疾病患者，并在其诊疗中采用了新型诊断与治疗手段。尽管采取了上述诊疗措施且患者未接受输血即获得良好预后，但我们仍认为该病属于特发性疾病。