Spontaneous recovery from pancytopenia in a young female patient with paroxysmal nocturnal hemoglobinuria (PNH): changes in the GPI-anchor expression on peripheral blood cells

DOI Web Site PubMed 15 References
  • INUKAI Takeshi
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi
  • SUGITA Kanji
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi
  • GOTO Miwa
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi
  • NAKAMURA Makoto
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi
  • TEZUKA Toru
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi
  • GOI Kumiko
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi
  • IIJIMA Kiyomu
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi
  • ISHIHARA Toshihide
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi Division of Pediatrics, Fujiyoshida City Hospital
  • KAGAMI Keiko
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi
  • NOJI Hideyoshi
    First Department of Internal Medicine, Fukushima Medical University
  • SHICHISHIMA Tsutomu
    First Department of Internal Medicine, Fukushima Medical University
  • NAKAZAWA Shinpei
    Department of Pediatrics, Faculty of Medicine, University of Yamanashi

Bibliographic Information

Other Title
  • 汎血球減少が自然回復した発作性夜間血色素尿症の女児例：末梢血球におけるGPI-anchor蛋白発現の経時的変化
  • 症例 汎血球減少が自然回復した発作性夜間血色素尿症の女児例:末梢血球におけるGPI-anchor蛋白発現の経時的変化
  • ショウレイ ハンケッキュウ ゲンショウ ガ シゼン カイフク シタ ホッサセイ ヤカン ケッシキソ ニョウショウ ノ ジョジレイ マッショウ ケッキュウ ニ オケル GPI anchor タンパク ハツゲン ノ ケイジテキ ヘンカ

Search this article

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic disorder, caused by impaired cell surface expression of GPI-anchors in hematopoietic cells as a result of somatic mutation in the PIG-A gene, and often progresses into bone marrow aplasia. We experienced a girl diagnosed as having PNH with spontaneous recovery from pancytopenia, and analyzed the GPI-anchor expression on peripheral blood cells. Thrombocytopenia was first determined when she was 5-years old, and Ham and sugar water tests were negative at the age of 6 years. Subsequently, the pancytopenia slowly progressed, and the diagnosis of PNH was made at the age of 8 years based on the positive Ham test. Frame-shift of the PIG-A gene in exon 2 was confirmed in the peripheral granulocytes at the age of 11 years. Pancytopenia spontaneously subsided over two years after diagnosis, and an almost normal hematogram except for mild thrombocytopenia has been maintained for the subsequent 4 years. In periodical flow cytometric analysis of the CD55 expression on granulocytes and erythrocytes and the CD48 expression on lymphocytes, the population of the PNH clone was almost unchanged during the first two years of spontaneous recovery, but that of CD55-negative erythrocytes gradually decreased, suggesting that regression of PNH clone might be unnecessary in transient improvement of pancytopenia.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 45 (3), 238-242, 2004

    The Japanese Society of Hematology

References(15)*help

See more

Keywords

Details 詳細情報について

Report a problem

Back to top