HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
HPRT-related hyperuricemia with a novel p.V35M mutation in HPRT1 presenting familial juvenile gout.
复制标题
HPRT 相关的高尿酸血症，HPRT1 中出现新的 p.V35M 突变，表现为家族性青少年痛风。
DOI：
10.1007/s13730-020-00459-9
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发表时间：
2020
期刊：
影响因子：
1
通讯作者：
Abe T.
中科院分区：
文献类型：
--
作者：
Mishima E;Mori T;Nakajima Y;Toyohara T;Kikuchi K;Oikawa Y;Matsuhashi T;Maeda Y;Suzuki T;Kudo M;Ito S;Sohara E;Uchida S;Abe T.
与完全缺乏次黄嘌呤磷酸核糖基转移酶（HPRT）（即，Lesch-Nyhan综合征），部分HPRT缺乏引起HPRT相关的高尿酸血症，无神经系统症状。在此，我们描述了一个22岁的男性，没有神经系统症状，提出痛风，高尿酸血症（血清尿酸水平，12.2毫克/分升），多发性肾微结石，和一个家族史的青少年痛风，表现为他的兄弟和祖父。基因检测显示HPRT 1基因中存在一种新的错义突变c.103G>A（p.V35M），生化检测（使用患者的红细胞进行）显示，与健康对照受试者相比，患者仅保留了12.4%的HPRT酶活性。因此，我们诊断患者与HPRT相关的高尿酸血症引起的部分HPRT缺乏症。在他的血清尿酸盐水平通过非布司他治疗得到控制后，他的痛风没有复发。因此，这项研究强调，HPRT缺乏症应被视为一个潜在的原因家族青少年痛风，即使在没有神经系统症状。
Unlike complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT) (i.e., Lesch–Nyhan syndrome), partial HPRT deficiency causes HPRT-related hyperuricemia without neurological symptoms. Herein, we describe a 22-year-old man without neurological symptoms that presented gout, hyperuricemia (serum urate level, 12.2 mg/dL), multiple renal microcalculi, and a family history of juvenile gout that was exhibited by his brother and grandfather. Genetic testing revealed a novel missense mutation, c.103G>A (p.V35M), in theHPRT1gene, and biochemical testing (conducted using the patient’s erythrocytes) showed that the patient retained only 12.4% HPRT enzymatic activity compared to that exhibited by a healthy control subject. We thus diagnosed the patient with HPRT-related hyperuricemia caused by partial HPRT deficiency. After his serum urate level was controlled via treatment with febuxostat, his gout did not recur. Thus, this study emphasizes that HPRT deficiency should be considered as a potential cause of familial juvenile gout, even in the absence of neurological symptoms.