머 리 말

저자인 Seiji Yamaguchi 교수로부터 처음 원저를 선물로 받아 책을 펼쳐보는 순간 한국어로 꼭 번역해 볼 만한 훌륭한 책이라고 생각하였다. 이 책을 통하여 임상교수, 전공의 및 연구자들에게 탠덤매스를 이용한 신생아스크리닝의 중요성, 탠덤매스의 결과와 임상적 상관관계, 그 유전적 의미에 대한 이해와 저변을 확대시켜야겠다는 생각이 간절하였다. 그 때의 열망이 2015년 정월 본 역서를 발간하게된 밑거름이 되었다.
본서는 얼핏 보기에는 내용이 매우 간결한 듯 보이지만 탠덤매스의 원리, 질환을 진단하기 위한 데이터의 해석, 유기산, 아미노산, 지방산 대사이상질환 기타 대사이상질환 등 다양한 유전성대사 질환을 포괄하는 임상과 유전에 대한 상당히 방대한 내용을 담고 있다. 따라서 필요에 따라 적절한 참고문헌과 함께 읽어야 될 것이다.
1장에서는 신생아스크리닝의 역사와 개념, 목적, 탠덤매스를 이용한 광범위 신생아스크리닝에 대해 다루었고 2장에서는 유전성대사이상질환의 확진방법, 확진 후 치료법, 진단전과 진단과정, 치료원칙, 식사법, 추적관리 등을 주 내용으로 하고 있으며 3장에서는 탠덤매스를 이용하여 대사이상질환을 진단함에 있어 탠덤매스에서 target으로 검출하는 화합물과 이의 대사과정과 관련된 대사질환에 대한 임상적 의의, 치료로 구성되었다.
부록에서는 탠덤매스에서 target으로 검출하고 있는 아미노산과 아실카르니틴의 cut-o치가 있으므로 각 연구실의 수치와 상호 비교해 볼 수 있으며, 한글 및 영문으로 주요 질환과 주요 화합물에 대한 색인이 있고, 질환에서 관심을 끌고 있는 임상적 지견이나 이론은 30여개의 memo를 통하여 재인식 할 수 있다.
본서가 의학도와 임상교수, 과학도, 연구교수들에게 유전성대사질환과 신생아스크리닝의 본질을 이해하는 작은 출발점의 역할을 할 수 있기를 희망 한다.


목 차

편집자·집필자 일람······························································ ii
서문····························································· 야마구치 세이지 iii
탠덤매스 스크리닝에 관한 기본용어 해설····························· 야마구치 세이지 ix
본 책에서 사용되는 약어 일람······················································ x

제1장 탠덤매스를 이용한 신생아스크리닝의 개요· ······················· 1
A. 신생아 스크리닝의 개요
  신생아 스크리닝의 개념과 역사····································· 야마구치 세이지 2
  광범위 스크리닝·················································· 야마구치 세이지 4
  탠덤매스법과 거스리법의 차이······································ 야마구치 세이지 6
  집단 검진 대상 질환과 그 요건······································ 야마구치 세이지 8
  대상 질환의 임상적 특징·········································· 야마구치 세이지 12
  집단 검진에 필요한 지원·········································· 야마구치 세이지 14
B. 탠덤매스법의 실제
  탠덤매스의 검사 항목과 연관 질환································ 시게마츠 요우스케 16
  탠덤매스법의 원리············································· 시게마츠 요우스케 18
  탠덤매스를 이용한 아실카르니틴과 아미노산의 분석················ 시게마츠 요우스케 22
  탠덤매스 검사의 실제··········································· 시게마츠 요우스케 24
  대상 질환의 진단 마커·········································· 시게마츠 요우스케 26
  탠덤 매스의 정도 관리·········································· 시게마츠 요우스케 28
  탠덤 매스의 분석 항목과 질환···································· 시게마츠 요우스케 30
  유리 카르니틴 및 아실카르니틴의 안정성································야마다 켄지 34
  탠덤매스 분석 결과에 영향을 주는 인자·································야마다 켄지 36

제2장 진단과 치료· ··························································· 37
A. 이상 발견에서 확정 진단까지
  확정 진단까지의 흐름············································· 야마구치 세이지 38
  아미노산 대사 이상증이 의심될 경우································ 야마구치 세이지 40
  유기산 대사 이상증이 의심될 경우·································· 야마구치 세이지 42
  지방산 대사 이상증이 의심될 경우·································· 야마구치 세이지 44
B. 치료
  대상 질환의 치료 원칙·········································· 오오우라 토시히로 46
  대상 질환의 급성기 치료········································ 오오우라 토시히로 47
  대상 질환의 만성기 치료········································ 오오우라 토시히로 48
  식사치료의 기본 지식··········································· 오오우라 토시히로 50
  치료에 사용되는 약제··········································· 오오우라 토시히로 53
  추적 관리 및 생활 지도·········································· 오오우라 토시히로 56

제3장 탠덤매스로 발견되는 질환··········································· 59
A. 아미노산 대사이상증
  아미노산 대사이상증의 스크리닝 개요······························ 야마구치 세이지 60
  페닐케톤뇨증 (고페닐알라닌혈증)···································신타쿠 하루오 64
  BH4 결핍증·······················································신타쿠 하루오 66
  단풍당뇨증 (MSUD)···············································신타쿠 하루오 68
  호모시스틴뇨증····················································신타쿠 하루오 70
  타이로신혈증 I형···················································신타쿠 하루오 72
A. 요소회로이상증
  시트룰린혈증···················································· 사카모토 오사무 74
  Citrullinemia type I············································· 사카모토 오사무 74
  알지니노석신산뇨증··················································쿠레 시게오 76
  아르지닌혈증························································쿠레 시게오 78
  고글라이신혈증······················································쿠레 시게오 80
  시트린 결핍증················································· 오오우라 토시히로 82
B. 유기산대사이상증
  유기산대사이상증의 스크리닝 개요································· 야마구치 세이지 86
  유기산 대사이상증의 출생전 진단·································· 야마구치 세이지 90
  메틸말론산혈증····················································하세가와 유키 92
  비타민 B12 반응성 메틸말론산혈증··································하세가와 유키 94
  프로피온산혈증····················································하세가와 유키 96
  이소발레릭산혈증·············································· 무시모토 유우이치 98
  메틸크로토닐글리산뇨증······································· 무시모토 유우이치 100
  3-히드록시-3 메틸글루타릭 산혈증······························후카오 토시유키 102
  다발성 카복실라제 결핍증········································후카오 토시유키 104
  글루타릭산혈증 ················································후카오 토시유키 106
  베타 케토치오라제 결핍증 (T2 결핍증)· ···························후카오 토시유키 108
  지방산 산화 대사이상증의 스크리닝 개요···························야마구치 세이지 110
C. 지방산대사이상증
  중쇄 아실 CoA 탈수소효소 (MCAD) 결핍증························야마구치 세이지 116
  단쇄 아실 CoA 탈수소효소 (SCAD) 결핍증························후카오 토시유키 118
  초장쇄 acyl-CoA 탈수소효소 (VLCAD) 결핍증····················후카오 토시유키 120
  미토콘드리아 trifunctional 단백질 결핍증·························후카오 토시유키 122
  CPT1 결핍증···················································후카오 토시유키 124
  CPT II 결핍증··················································후카오 토시유키 126
  CACT 결핍증···················································후카오 토시유키 128
  글루타르 산혈증 II형··········································· 무시모토 유우이치 130
  SCHAD 결핍증··············································· 무시모토 유우이치 132
  전신성 카르니틴 결핍증········································ 코바야시 히로노리 134
  후천성 카르니틴 결핍증········································ 코바야시 히로노리 136

appendix
  주된 진단 마커들의 수치범위 (혈액여지)························· 시게마츠 요우스케 140
  주된 진단 마커들의 cut-off치 (혈청)··························· 시게마츠 요우스케 141
  아실카르니틴의 분석 (MRM mode)을 위한 선택이온· ············ 시게마츠 요우스케 142
  아미노산의 분석 (MRM mode)을 위한 선택이온· ················ 시게마츠 요우스케 144

색 인·········································································145