Adenine phosphoribosyltransferase (APRT)欠損症に合併した鉄芽球性貧血

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タイトル別名
  • Sideroblastic Anemia Associated with Adenine Phosphoribosyltransferase Deficiency

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We report a case of acquired idiopathic sideroblastic anemia associated with adenine phosphoribosyltransferase (APRT) deficiency. A 72-year-old male had been troubled with urolithiasis since his teens. In 1984, he was referred to us because of chronic renal failure and anemia. He was diagnosed as having sideroblastic anemia and required red cells transfusion regularly. In June 1989, he was admitted to our hospital because of cerebral infarction. Peripheral blood analysis showed pancytopenia. Bone marrow aspiration revealed hypercellularity with 36.2% erythroblasts, and 18.5% ringed sideroblasts of all nucleated cells. According to the FAB classification, a diagnosis of refractory anemia with ring sideroblasts was made. As his urinary stone consisted of 2, 8-dihydroxyadenice by analysis of infrared spectrum, genetic and enzymatic studies were performed. These studies indicated APRT deficiency. He died of pneumonia accompained with progressive renal failure on August 9, 1989.<br>We discussed the first case report of sideroblastic anemia associated with APRT deficiency.

収録刊行物

  • 臨床血液

    臨床血液 31 (10), 1701-1705, 1990

    一般社団法人 日本血液学会

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