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Juvenile Pernicious Anemia in Sisters

Journal of the Korean Pediatric Society 1968;11(7):375-380.
Published online July 31, 1968.
Juvenile Pernicious Anemia in Sisters
Hyun Lee, Goeng Pil Chun, Ki Yung Lee, Duk Jin Yun
Department of Pediatrics, Yonsei University College of Medicine, Seoul,Korea
姉妹에서 본 小兒期惡性負血症
李炫, 全宏弼, 李基寧, 尹德鎭
Two cases of juvenile pernicious anemia in Korean sisters have been followed for 4 years since 7 years and 4 years of age respectively. The symptoms and signs were pale facies, general malaise, sore tongue, anorexia, frequent febrile episodes, macrocytic anemia, thrombocytopenia, multilobulated leu- cocytes with more than 6 lobules and megaloblastic proliferation in bone marrow aspiration. Dramatic hematological response to the parenteral administration of vitamin B12 with a significantly increased excretion rat Qof vitamin B12 by Schilling test as shown by an increase from 0 to 11.6% in elder sister and from 0 to 5.6% in younger sister with the addition of commercial intrinsic factor concentrate were demonstrated. These findings are compatible with the characteristics of juvenile pernicious anemia resulting from defect of Castle’s intrinsic factor.

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