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先天性吡多醇有效性荷鐵紅血芽球增生性貧血一病例報告

Congenital Pyridoxine Responsive Sideroblastic Anemia-Report of a Case-

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摘要


「先天性吡多醇有效性荷鐵紅血芽球增生性貧血」係世所罕見,本篇報告一名14歲男孩患有重度貧血,紅血球成熟有窒礙;經吡多醇治療後效果良好,除記述此病例外,我們並參攷文獻,試對有紅血芽球增生的貧血症(sideroblastic anemia)的臨床表現,生理化學反應做一回顧。

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並列摘要


A case of ”sideroblastic a nemia” in a fourteen-year-old boy is reported. He came to National Taiwan University Hospital for progressive pallor, weak-ness started at the age of twelve. Hematological findings showed profound anemia with microcytic, hypochromic red cell population among normal erythrocytes. Ineffective erythropoiesis manifested by erythroid hyperplasia which was arrested at basophilic normoblastic stage and many cells were ringed sideroblasts. His body was iron loaded as shown by elevated serum iron, ferritin and transferrin saturation. He responded fairly well to pyridoxine has been doing well and regularly followed up to the time of writing this report.

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