Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations. The CTNS gene encodes the protein cystinosin, which transports free cystine from lysosomes to cytoplasm. In cases of cystinosin deficiency, free cystine accumulates in lysosomes and forms toxic crystals that lead to tissue and organ damage. Since CTNS gene mutations were first described, many variations have been identified that vary according to geographic region, although the phenotype remains the same. Cystinosis is a hereditary disease that can be treated with the cystine-depleting agent cysteamine. Cysteamine slows organ deterioration, but cannot treat renal Fanconi syndrome or prevent eventual kidney failure; therefore, novel treatment modalities for cystinosis are of great interest to researchers. The present review aims to highlight the geographic differences in cystinosis-specifically in terms of its genetic aspects, clinical features, management, and long-term complications.

中文翻译：

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肾病性胱氨酸病：遗传条件的更新。

胱氨酸病是一种由 CTNS 基因突变引起的常染色体隐性遗传溶酶体贮积症。CTNS 基因编码胱氨酸蛋白，该蛋白将游离胱氨酸从溶酶体转运至细胞质。在胱氨酸缺乏症的情况下，游离胱氨酸在溶酶体中积聚并形成导致组织和器官损伤的有毒晶体。自从首次描述 CTNS 基因突变以来，已发现许多变异，这些变异因地理区域而异，但表型保持不变。胱氨酸病是一种遗传性疾病，可以用胱氨酸消耗剂半胱胺治疗。半胱胺减缓器官退化，但不能治疗肾范可尼综合征或预防最终的肾衰竭；因此，研究人员对胱氨酸病的新治疗方式非常感兴趣。