Sharma Lokesh, Rout Preeti
Sanjay Gandhi Postgraduate Institute of Medical sciences, Lucknow
Wilson Case Western University
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the gene, which encodes the cystinosin protein. This disorder affects an estimated 1 in 100,000 to 200,000 live births worldwide. Cystinosis is characterized by the accumulation of cystine within cellular lysosomes, ultimately affecting almost all organs. Renal involvement, characterized by proximal tubulopathy, is the most common cause of morbidity and mortality in nephropathic or infantile cystinosis and eventually leads to renal failure. Cystinosis is also the most common inherited cause of Fanconi syndrome in children. The 3 known forms of cystinosis are infantile (nephropathic), juvenile (intermediate and late-onset), and adult (benign, ocular, and non-nephropathic). The infantile form is the most common and severe, accounting for about 95% of cases, and typically leads to end-stage renal disease (ESRD) by ages 10 to 12. Cysteamine, a cystine-depleting therapy, is the cornerstone of treatment for this disorder. Early recognition and treatment with cysteamine can delay the progression to ESRD and associated morbidities, resulting in improved overall outcomes.
胱氨酸贮积症是一种罕见的常染色体隐性溶酶体贮积病，由编码胱氨酸转运体蛋白的基因发生突变引起。据估计，全球每10万至20万例活产婴儿中约有1例受此疾病影响。胱氨酸贮积症的特征是细胞溶酶体内胱氨酸蓄积，最终累及几乎所有器官。以近端肾小管病变为特征的肾脏受累是肾病型或婴儿型胱氨酸贮积症发病和死亡的最常见原因，最终会导致肾衰竭。胱氨酸贮积症也是儿童范科尼综合征最常见的遗传病因。已知的胱氨酸贮积症有3种类型：婴儿型（肾病型）、青少年型（中间型和晚发型）和成人型（良性、眼型和非肾病型）。婴儿型最为常见且病情严重，约占病例的95%，通常在10至12岁时发展为终末期肾病（ESRD）。半胱胺是一种减少胱氨酸的疗法，是治疗该疾病 的基石。早期识别并用半胱胺治疗可延缓向ESRD及相关疾病的进展，从而改善总体预后。
