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
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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.
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