Faculty Information |
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Article types | Case report |
Language | English |
Refereed paper | Not refereed |
Title | Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia. |
Journal | Formal name:Internal medicine (Tokyo, Japan) Abbreviation:Intern Med ISSN code:1349-7235(Electronic)0918-2918(Linking) |
Domestic / Foregin | Foregin |
Volume, Number, Page | 54(12),pp.1523-6 |
Papers・Author | Kurajoh Masafumi, Koyama Hidenori, Hatayama Miki, Okazaki Hirokazu, Shoji Takuhito, Moriwaki Yuji, Yamamoto Tetsuya, Nakayama Tomitaka, Namba Mitsuyoshi |
Publication date | 2015 |
Papers・Description | 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. |
DOI | 10.2169/internalmedicine.54.3290 |
PMID | 26073243 |