Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia

Masafumi Kurajoh; Hidenori Koyama; Miki Hatayama; Hirokazu Okazaki; Takuhito Shoji; Yuji Moriwaki; Tetsuya Yamamoto; Tomitaka Nakayama; Mitsuyoshi Namba

doi:10.2169/internalmedicine.54.3290

CASE REPORTS

Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia

Masafumi Kurajoh, Hidenori Koyama, Miki Hatayama, Hirokazu Okazaki, Takuhito Shoji, Yuji Moriwaki, Tetsuya Yamamoto, Tomitaka Nakayama, Mitsuyoshi Namba

Author information

Masafumi Kurajoh
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
Hidenori Koyama
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
Miki Hatayama
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
Hirokazu Okazaki
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
Takuhito Shoji
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
Yuji Moriwaki
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
Tetsuya Yamamoto
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan
Tomitaka Nakayama
Department of Orthopaedics, Toyooka Public Hospital, Japan
Mitsuyoshi Namba
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine, Japan

Keywords: HPRT, variant, urate, febuxostat, benzbromarone

JOURNAL OPEN ACCESS

2015 Volume 54 Issue 12 Pages 1523-1526

DOI https://doi.org/10.2169/internalmedicine.54.3290

Details

Abstract

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.

Corresponding author

Register with J-STAGE for free!