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

Yang, Ju-Hee; Park, Min-Hyuk; Kim, Deok-Soo; Shim, Jae-Won; Shim, Jung-Yeon; Jung, Hye-Lim; Yoo, Han-Wook; Park, Moon-Soo

J Korean Soc Pediatr Nephrol > Volume 7(1); 2003 > Article

J Korean Soc Pediatr Nephrol 2003;7(1): 86-90.

HPRT 유전자 돌연변이에 의한 HPRT 부분결핍증 1례

양주희, 박민혁, 김덕수, 심재원, 심정연, 정혜림, 유한욱, 박문수

¹성균관대학교 의과대학 강북삼성병원 소아과
²성균관대학교 의과대학 강북삼성병원 소아과
³성균관대학교 의과대학 강북삼성병원 소아과
⁴성균관대학교 의과대학 강북삼성병원 소아과
⁵성균관대학교 의과대학 강북삼성병원 소아과
⁶성균관대학교 의과대학 강북삼성병원 소아과
⁷울산대학교 의과대학 서울아산병원 소아과
⁸성균관대학교 의과대학 강북삼성병원 소아과

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

Ju-Hee Yang, Min-Hyuk Park, Deok-Soo Kim, Jae-Won Shim, Jung-Yeon Shim, Hye-Lim Jung, Han-Wook Yoo, Moon-Soo Park

¹Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine
²Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine
³Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine
⁴Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine
⁵Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine
⁶Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine
⁷Department of Pediatrics, Asan Medical Center, Ulsan University College of Medicine
⁸Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine

ABSTRACT

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.

Key words: Urate crystaluria | Partial HPRT deficiency | HPRT gene mutation