| A Case of Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Presenting as Uric Acid Lithiasis |
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Ji Hae Kim, Mi Jung Kim, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Soon Kyum Kim |
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Department of Pediatrics, College of Medicine, Korea University, Guro Hospital, Seoul, Korea |
| 요산 신결석으로 나타난 Hypoxanthine-Guanine Phosphoribosyltransferase 부분 결핍증 1례 |
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김지혜, 김미정, 유기환, 홍영숙, 이주원, 김순겸 |
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고려대학교 의과대학 소아과학교실 |
Correspondence:
Kee Hwan Yoo, Email: guroped@korea.ac.kr
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| Abstract |
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The deficiency of enzyme hypoxanthine-guanine phosphoribosyltransferase(HPRT) results in hyperuricemia and subsequently manifests in diverse symptoms. Lesch-Nyhan syndrome is a disorder characterized by hyperuricemia, mental retardation, choreoathetosis, spasticity and self-mutilation, resulting from complete deficiency of the enzyme, whereas partial deficiency of the enzyme shows symptoms of milder forms more often without abnormal neurologic signs. A 7-year-old boy with normal growth and psychomotor development presented with a uric acid stone accompanied by a disproportionate increase of serum/urine uric acid level. The stone was removed by nephrolithotomy and further enzymatic study on lysed erythrocytes showed less than 1% of the normal HPRT activity. After initiation of treatment with allopurinol, the uric acid level was rapidly decreased to a normal range and the patient has not shown hyperuricemia or nephropathy since. Although partial HPRT deficiency is not commonly seen, this possibility should be considered whenever urolithiasis is accompanied by disproportionately high levels of serum uric acid. |
| Key Words:
Partial hypoxanthine-guanine phosphoribosyl transferase(HPRT) deficiency, Hyperuricemia, Uric acid stone |
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