A CASE OF PARTIAL DEFICIENCY OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE

OH Koei, NAMIKI Osamu, TOYOSHIMA Yoichi, INAGAKI Katsunori, YAMADA Yasukazu

doi:10.14930/jshowaunivsoc.73.43

Bibliographic Information

Other Title

Hypoxanthine-guanine phosphoribosyltransferase部分欠損症の1例
Hypoxanthine-guanine phosphoribosyltransferase 部分欠損症の1例 : 高度関節破壊を認めた症例
Hypoxanthine-guanine phosphoribosyltransferase ブブンケッソンショウノ 1レイ : コウドカンセツハカイオミトメタショウレイ
―高度関節破壊を認めた症例―

Search this article

Abstract

A 45-year-old man who had had frequent gouty arthritis since he was 17 years old consulted our hospital for pain and limited motion of both ankle joints. The patient had been been previously admitted in another hospital for acute renal failure and also had mental disorders. During the clinical course, we hypothesized that the patient suffered from some congenital disorder of purine nucleotide metabolism. We requested the Institute for Developmental Research Aichi Prefectural Colony to perform gene analysis. A point mutation of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene 68G (guanine) to T (thymine) was detected. The serum concentrations of hypoxanthine and xanthine were markedly increased and the HPRT enzyme activity was low; the adenine phosphoribosyltransferase (APRT) activity level was two-fold the control. From these results, we considered that the patient suffered from a partial deficiency of HPRT. Allopurinol at a dosage of 200 to 300mg per day, relieved his pain and the joint swelling was reduced but severe deformity of the ankles remained. A case of partial HPRT with severe joint deformity has not been previously reported.

Journal

Journal of The Showa University Society

Journal of The Showa University Society 73 (1), 43-47, 2013

The Showa University Society

Keywords

Details 詳細情報について

Export