The PKU paradox : a short history of a genetic disease
著者
書誌事項
The PKU paradox : a short history of a genetic disease
(Johns Hopkins biographies of disease)
Johns Hopkins University Press, 2013
- : pbk
大学図書館所蔵 全2件
  青森
  岩手
  宮城
  秋田
  山形
  福島
  茨城
  栃木
  群馬
  埼玉
  千葉
  東京
  神奈川
  新潟
  富山
  石川
  福井
  山梨
  長野
  岐阜
  静岡
  愛知
  三重
  滋賀
  京都
  大阪
  兵庫
  奈良
  和歌山
  鳥取
  島根
  岡山
  広島
  山口
  徳島
  香川
  愛媛
  高知
  福岡
  佐賀
  長崎
  熊本
  大分
  宮崎
  鹿児島
  沖縄
  韓国
  中国
  タイ
  イギリス
  ドイツ
  スイス
  フランス
  ベルギー
  オランダ
  スウェーデン
  ノルウェー
  アメリカ
注記
Includes bibliographical references (p. 223-282) and index
内容説明・目次
内容説明
In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco's beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing.
The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.
目次
Foreword, by Charles E. Rosenberg
Preface
List of Abbreviations
Introduction: Pearl Buck, PKU, and Mental Retardation
1. The Discovery of PKU as a Metabolic Disorder
2. PKU as a Form of Cognitive Impairment
3. Testing and Treating Newborns, 1950-1962
4. The Campaign for Mandatory Testing
5. Sources of Skepticism
6. New Paradigms for PKU
7. Living with PKU
8. The Perplexing Problem of Maternal PKU
9. Who Should Procreate? Perspectives on Reproductive Choice and Responsibility in Postwar America
10. Newborn Screening Expands
Epilogue: "The Government Has Your Baby's DNA": Contesting the Storage and Secondary Use of Residual Dried Blood Spots
Acknowledgments
A Note on Sources
Notes
Index
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