Vargiami Euthymia, Printza Nikoleta, Papadimiditriou Eleni, Batzios Spyros, Kyriazi Maria, Papachristou Fotios, Zafeiriou Dimitrios I
1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Urology. 2016 Nov;97:194-196. doi: 10.1016/j.urology.2016.04.004. Epub 2016 Apr 11.
Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism, due to deficiency of the enzyme HPRT (hypoxanthine-guanine phosphoribosyl transferase) and underlying HPRT gene mutations (over 300 mutations identified up to date). It is characterized by a wide range of neurological symptoms and signs (mainly a combination of spastic diplegia with choreoathetosis and an overall psychomotor redardation). Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency.
莱施-奈恩综合征是一种X连锁隐性遗传性嘌呤代谢病，因缺乏次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）以及潜在的HPRT基因突变（迄今已鉴定出300多种突变）所致。其特征为广泛的神经症状和体征（主要是痉挛性双侧瘫合并舞蹈手足徐动症以及整体精神运动发育迟缓）。在此，我们报告了两名患有莱施-奈恩综合征且确诊有新型HPRT基因突变（c.65T>C）的堂兄弟，他们均出现了肾钙质沉着症和肾衰竭，这些发现此前尚未在HPRT缺乏的儿童中发表过。
