Pyruvate Kinase異常症(PK Aizu, PK Fukushima) の2家系2症例

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タイトル別名
  • Two Cases of Pyruvate Kinase Variants
  • Pyruvate Kinase イジョウショウ PK Aizu PK Fuku

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Two cases of pyruvate kinase variants were reported. These patients were a girl, aged 19 (case 1), and a boy aged 16 (case 2). The parents of both cases are first cousins.<br>Case 1: The jaundice was noted shortly after birth. She was admitted to our hospital and diagnosed nonspherocytic hemolytic anemia at 12 years old. The liver and spleen were palpable 1.5cm below the respective costal margins.<br>Case 2: He had been pale since birth. Jaundice and hepatosplenomegaly were noticed at 11 years old. At the age of 12, he had a splenectomy for the tentative diagnosis of Banti syndrome.<br>In both cases, red cell PK was lowered. Red cell glycolytic intermediates showed high PEP, 2-PG, 3-PG, 2, 3-DPG and low ATP levels.<br>These variants were designated PK Aizu (case 1) and PK Fukushima (case 2).<br>Enzymatic characteristics of these cases have been reported elsewhere (Brit. J. Haemat., 45: 575, 1980).

収録刊行物

  • 臨床血液

    臨床血液 23 (2), 206-214, 1982

    一般社団法人 日本血液学会

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