Clin Nephrol. 2021 Aug;96(2):120-123. doi: 10.5414/CN110307.
Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited disorder caused by mutations in gene resulting in deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). LND is characterized by hyperuricemia and a spectrum of neurological and behavioral manifestations. We describe a rare case of a 14-month-old boy presenting with acute renal failure and hyperuricemia. The patient exhibited all features of LNS apart from self-injurious behavior. The enzymatic analysis demonstrated total inactivity of the HPRT, and the molecular analysis revealed a splice-site mutation in intron 3 leading to exon 4 exclusion. This splice-site mutation has been previously reported only twice.
莱施-尼汉综合征（Lesch-Nyhan disease，LND）是一种罕见的 X 连锁隐性遗传疾病，由基因的突变引起，导致次黄嘌呤-鸟嘌呤磷酸核糖转移酶（hypoxanthine-guanine phosphoribosyltransferase，HPRT）缺乏。LND 的特征是高尿酸血症和一系列神经和行为表现。我们描述了一例 14 个月大的男孩，他因急性肾衰竭和高尿酸血症就诊。除了自伤行为外，患者表现出 LNS 的所有特征。酶分析显示 HPRT 完全无活性，分子分析显示 3 号内含子中的剪接位点突变导致 4 号外显子缺失。这种剪接位点突变之前仅报道过两次。
