HPRT 유전자 돌연변이에 의한 HPRT 부분결핍증 1례

Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene

  • 양주희 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 박민혁 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 김덕수 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 심재원 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 심정연 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 정혜림 (성균관대학교 의과대학 강북삼성병원 소아과) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아과) ;
  • 박문수 (성균관대학교 의과대학 강북삼성병원 소아과)
  • Yang Ju-Hee (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Park Min-Hyuk (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Kim Deok-Soo (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Shim Jae-Won (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Shim Jung-Yeon (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Jung Hye-Lim (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine) ;
  • Yoo Han-Wook (Department of Pediatrics, Asan Medical Center, Ulsan University College of Medicine) ;
  • Park Moon-Soo (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine)
  • 발행 : 2003.04.01

초록

저자들은 출생시부터 지속된 육안적 오렌지색소변 결정체를 주소로 내원한 8개월된 남아에서 HPRT 유전자의 돌연변이에 의한 HPRT 부분결핍증 1례를 경험하였기에 이를 문헌고찰과 함께 보고한다.

An 8-month-old male infant presented with persistent, gross, orange-colored crystals in his urine. His physical and neurological development was normal. Laboratory study showed hyperuricemia, hyperuricosuria and urate crystaluria. He was determined to have partial hypoxanthine-guanine phosphoribosyl transferase(HPRT) deficiency. The molecular genetic analysis revealed a missense mutation in the patient's HPRT gene. By sequencing the patient's cDNA, we identified an A-to-G transition at nucleotide 239, resulting in the replacement of Aspartate with Glycine at amino acid 80 in the HPRT. To our knowledge, this mutation has not previously been reported. Our patient is now being placed on allopurinol therapy, and has had no problem since. Partial HPRT deficiency has been known to cause recurrent acute renal failure without the phenotypic features of Lesch-Nyhan syndrome. Therefore, we think that early diagnosis and treatment are very crucial in preventing acute renal failure.

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