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DIAGNOSIS AND GENETIC ASPECTS OF WILSON'SDISEASE IN CHILDHOOD Masataka Arima 1 , Nobuyuki Shima 1 , Masaki Suzuki 1 , Hidehiko Haruna 1 , Yasuko Yuasa 1 1Department of Pediatrics, Faculty of Medicine, University of Tokyo pp.175-181
Published Date 1961/3/1
DOI https://doi.org/10.11477/mf.1406201046
  • Abstract
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Clinical and laboratory findings in 15 chil-dren with Wilson's disease were reported.Four cases died of hepatic insufficiency be-1tween 6 years 5 months and 12 years old, andneither of them developed neurological signsor symptoms during life. Two girls of 5years 5 months and 8 years of age look wellnow and the detected abnormalities at pre-sent are an elevation of transaminase andlactic dehydrogenase activities, aminoacidu-ria, very low serum ceruloplasmin levels, andan increased urinary copper excretion. Ka-yser-Fleischer rings were not found in thepatients of less than 7 years old. The deter-minations of serum ceruloplasmin and tran-saminase levels were most useful for thediagnosis and detection of hepatic distur-bance at an early stage of Wilson's disease,except for the rare cases with normal ceru-loplasmin levels. Of 12 families, there were7 consanguineous marriage. Genetic studieswere made on the basis of family history, examination of Kayser-Fleischer rings andliver functions, as well as determinations ofserum cerulopalsmin levels and urinary out-puts of copper and aminoacid, in the parentsand siblings.


Copyright © 1961, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院

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