Partial HPRT Deficiency with a Novel Mutation of the <i>HPRT</i> Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia
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- Kurajoh Masafumi
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
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- Koyama Hidenori
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
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- Hatayama Miki
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
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- Okazaki Hirokazu
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
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- Shoji Takuhito
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
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- Moriwaki Yuji
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
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- Yamamoto Tetsuya
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
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- Nakayama Tomitaka
- Department of Orthopaedics, Toyooka Public Hospital, Japan
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- Namba Mitsuyoshi
- Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
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抄録
A 15-year-old boy was referred to our department due to gout. The laboratory findings showed hyperuricemia with a decreased erythrocyte hypoxanthine phosphoribosyl transferase (HPRT) activity. The HPRT cDNA sequence was revealed to be 206A>T, which has not been previously reported. In addition, direct sequencing of genomic DNA showed the patient to possess four variants reported to be associated with hyperuricemia. This is the first case report of partial HPRT deficiency due to a novel HPRT mutation accompanied by variants associated with hyperuricemia. Combination treatment consisting of benzbromarone and febuxostat had a significant effect in reducing the urate level in our patient.<br>
収録刊行物
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- Internal Medicine
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Internal Medicine 54 (12), 1523-1526, 2015
一般社団法人 日本内科学会