目的 探讨胱氨酸病的诊断。方法 回顾性分析1例胱氨酸病患儿的临床、生化和基因检测资料。结果 患儿，女， 4岁。 2岁时出现畏光，眼科检查发现角膜结晶， 3岁发现双肾结石，伴体格发育落后、佝偻病。尿液气相色谱分析多 种氨基酸增加，尿糖、尿微量蛋白增高，符合范可尼综合征。血液游离肉碱降低，酯酰肉碱谱正常，赖氨酸、缬氨酸、精氨 酸等多种氨基酸降低。基因分析示CTNS基因存在纯合突变c.696C ＞ G（p.323 N ＞ K），为已知突变。患儿父母均为CTNS 基因c.696C ＞ G杂合突变携带者。结论 对于主要表现为肾结石、肾损害，伴眼部、骨骼、甲状腺等多系统损害的患儿应 注意鉴别胱氨酸病。

Objective To explore the diagnosis of cystinosis. Methods The clinical and biochemical information, and gene detection results in a child with cystinosis was retrospective analyzed. Results Four-year-old female presented with photophobia and corneal crystal was found by ophthalmic examination at 2 years old, bilateral kidney stone was found, accompanied by development delay and rickets at 3 years old. Gas chromatography analysis in urine showed that a variety of amino acids were increased, and urine sugar and urinary micro-protein were also increased, which were in accordance with fanconi syndrome. The blood free carnitine was decreased, ester acyl carnitine spectrum was normal, and multi-amino acids such as lysine, valine and arginine were decreased. Gene analysis showed a homozygous mutation of c.696C ＞ G (p.323 N ＞ K) in CTNS gene, which was a known mutation. Both her parents were carrier of heterozygous mutation of c.696C ＞ G in CTNS gene. Conclusion Child with kidney stone, renal damage, combined by multi-system damage such as eyes, bone, and thyroid should be paid attention to identify the cystinosis.