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Juvenile Pernicious Anemia in Sisters

Yonsei Medical Journal 1967년 8권 1호 p.71 ~ 76
윤덕진 ( Yun Duk-Jin ) - 연세대학교 의과대학 소아과학교실

 ( Lee Hyun ) - 연세대학교 의과대학 소아과학교실
 ( Chun Goeng-Pil ) - 연세대학교 의과대학 소아과학교실
이기영 ( Lee Ki-Young ) - 연세대학교 의과대학 소아과학교실

Abstract


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 hyperchromic anemia, thrombocytopenia, multilobulated leucocytes 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 rate of vitamin Bl2 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 were demonstrated.

These findings are compatible with the characteristics of juvenile pernicious anemia resulting from defect of Cast1e’s intrinsic factor.

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