遗传性微球增多症晚期诊断1例

M. Kunst, А. V. Kosterina, N. V. Iskhakova
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引用次数: 0

摘要

遗传性球形红细胞增多症是一种先天性溶血性贫血,常染色体显性遗传,其特点是红细胞膜结构破坏(微球形红细胞增多症),红细胞渗透性脆性增加,脾脏血管过度破坏,脾切除术明显有利。红细胞的过度破坏导致贫血、网织红细胞增多症、高胆红素血症(由于间接部分),随后是胆石症。加重微球增多症病程的因素是叶酸缺乏,这可能出现在营养有限的人和孕妇身上。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical case of late diagnosis of hereditary microspherocytosis
Hereditary spherocytosis is a congenital hemolytic anemia, with an autosomal dominant type of inheritance, characterized by a violation of the structure of the erythrocyte membrane (microspherocytosis), increased osmotic fragility of erythrocytes, excessive destruction in the vasculature of the spleen, with a pronounced favorable response to splenectomy. Excessive destruction of red blood cells leads to anemia, reticulocytosis, hyperbilirubinemia (due to the indirect fraction) followed by cholelithiasis. The factor that aggravates the course of microspherocytosis is folate deficiency, which can appear both in people with limited nutrition and in pregnant women.
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