용혈빈혈로 나타난 골수형성이상증후군 1예
A Case of Myelodysplastic Syndrome Characterized by Hemolytic Anemia at Presentation
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초록
화학요법이나 독성물질에 노출된 적 없는 78세 남자 환자가 3개월간의 호흡곤란과 수년간의 간헐적인 붉은색 소변이 있었다. 입원 당시 혈액검사상 혈색소 65 g/L, 백혈구 4.05×109/L, 혈소판 96 ×109/L, 그물적혈구 10.9%였다. 말초혈액도말검사상 다염적혈구의 증가, 유핵적혈구 및 호중구의 비분엽성핵이 관찰되었다. 골수검사에서 세포충실도는 증가하였고, 적혈구계의 증식과 함께 적혈구, 과립구, 거대핵세포의 형성이상이 관찰되었고 다계열형성이상불응혈구감소증에 합당하였다. 골수검체로 시행한 염색체 검사에서 45,XY,der(9;17)(p10;q10),add(18)(q11.2)[10]/45,idem,del(3)(q21)[10]의 이상소견이 발견되었다. 합토글로빈은 감소, 젖산탈수소효소 및 간접빌리루빈이 증가하였으며, 직접 및 간접 항글로불린검사는 음성이었고, 적혈구에 대한 CD55, CD59 항체검사와 백혈구에 대한 CD24, fluorescent aerolysin (FLAER) 항체검사에서 음성이었다. 저온응집소와 Donath-Landsteiner 항체도 검출되지 않았다. 본 증례는 용혈빈혈증상을 나타내었으나 골수형성이상증후군으로 진단받고 복합 염색체 이상이 동반된 증례이다.
Abstract
A man aged 78 yr with no history of chemotherapy or toxic exposure presented with a history of dyspnea and intermittent red urine for 3 months and several years, respectively. Hematologic data at admission were as follows: hemoglobin, 65 g/L; white blood cell count, 4.05×109/L; platelet count, 96×109/L; and reticulocyte count, 10.9%. A peripheral blood smear revealed polychromasia, nucleated red blood cells, and neutrophils with a non-lobulated nucleus. The bone marrow was hypercellular and exhibited an increase in erythroid precursors with trilineage dysplasia and our findings were suggestive of refractory cytopenia with multilineage dysplasia (RCMD). Karyotype of bone marrow cells was as follows: 45,XY,der(9;17)(p10;q10),add(18)(q11.2)[10]/45,idem,del(3)(q21)[10]. Other laboratory findings showed decreased serum haptoglobin, increased lactate dehydrogenase, and increased indirect bilirubin levels. Moreover, results of the direct/indirect antiglobulin test (Coombs’ test) and paroxysmal nocturnal hemoglobinuria analysis with CD55, CD59, fluorescent aerolysin (FLAER), and CD24 were negative. Cold agglutinin and Donath-Landsteiner antibodies were not detected. This is a case of myelodysplastic syndrome (MDS) associated with hemolytic anemia and complex chromosomal abnormalities at presentation.
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