Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case of Lesch-Nyhan Syndrome

Lesch-Nyhan 증후군 1례

  • Kim, Joon-Sung (Department of Pediatrics, Chonnam National University Medical School) ;
  • Lee, Jae-Seung (Department of Pediatrics, College of Medicine, Yonsei University) ;
  • Noh, Ha-Young (Department of Pediatrics, Chonnam National University Medical School) ;
  • Kim, Byung-Ju (Department of Pediatrics, Chonnam National University Medical School) ;
  • Woo, Young-Jong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Park, Jee-Min (Department of Pediatrics, College of Medicine, Yonsei University) ;
  • Kim, Myung-Gwan (Department of Pediatrics, College of Medicine, Yonsei University) ;
  • Kim, Gu-Hwan (Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center) ;
  • Yoo, Han-Wook (Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center)
  • 김준성 (전남대학교 의과대학 소아과학교실) ;
  • 이재승 (연세대학교 의과대학 소아과학교실) ;
  • 노하영 (전남대학교 의과대학 소아과학교실) ;
  • 김병주 (전남대학교 의과대학 소아과학교실) ;
  • 우영종 (전남대학교 의과대학 소아과학교실) ;
  • 박지민 (연세대학교 의과대학 소아과학교실) ;
  • 김명관 (연세대학교 의과대학 소아과학교실) ;
  • 김구환 (서울아산병원 소아과 의학유전학 클리닉 및 검사실) ;
  • 유한욱 (서울아산병원 소아과 의학유전학 클리닉 및 검사실)
  • Received : 2002.12.24
  • Accepted : 2003.02.28
  • Published : 2003.05.15
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Abstract

Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.

저자들은 빈번한 구토와 성장 장애, 발달 지연 등을 주소로 내원한 1년 7개월된 남아에서 HPRT에 대한 생화학적 효소 분석을 통해 진단하고, HPRT 유전자에 대한 분자유전학적 분석을 시행하여 병인이 되는 돌연변이가 확인된 Lesch-Nyhan 증후군 1례를 경험하였기에 이를 문헌고찰과 함께 보고하는 바이다.

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