胱氨酸贮积症发病机制及诊疗新进展  

New progress in pathogenesis and diagnosis of cystinosis

作　　者：寇文韬(综述) 李燕(审校)[1] Kou Wentao;Li Yan(Department of Nephrology,the First Affiliated Hospital,Xi'an Jiaotong University,Shaanxi,Xi'an 710000,China;不详)

机构地区：[1]西安交通大学第一附属医院肾脏内科,西安710000 [2]陕西省西安市长安区医院肾脏内科,西安710100

出　　处：《疑难病杂志》2025年第3期376-380,共5页Chinese Journal of Difficult and Complicated Cases

基　　金：西安交通大学第一附属医院罕见肾脏病注册研究(XJTU1AF-CRF-2022-041);西安交通大学第一附属医院科研发展基金(2021ZYTS-20)。

摘　　要：胱氨酸贮积症是一种常染色体隐性遗传病。传统的治疗药物为半胱胺,但并不能完全逆转已造成的脏器损伤。该病预后极差,确诊率低,但近来多种研究提示尽早诊断并干预可明显改善患者的预后。文章对近年来国内外在胱氨酸贮积症的发病机制、治疗及监测手段等方面的最新研究进展进行综述,以期为患者提供更早的诊断、更优的治疗方案。Cystinosis is a rare autosomal recessive inherited disease.The mutation of cystine transporter gene of CTNS causes cystine accumulation in the lysosomes of the kidney and other organs,leading to organ dysfunction.Although the genetic background is clear,cystine accumulation is not the only mechanism of organ damage.At present,thiamine as a traditional treatment regimen,although it can partially prevent the progression of organ damage by depleting cystine,its effect is insufficient to the damage already caused,because they are often irreversible.In the past,it was thought that the prognosis of the disease was very poor,but recently a variety of large studies at home and abroad have shown that early intervention can significantly improve the prognosis of patients,so early diagnosis of the disease is particularly important.More attention is needed to improve the understanding of the disease,to address organ damage from non-accumulative mechanisms,and to develop new treatments to improve the quality of life of patients.The purpose of this review is to sort out the recent advances in the pathogenesis,The latest advances in treatment and monitoring methods are expected to provide patients with earlier diagnosis and better treatment options,thereby delaying disease progression,prolonging patients'survival and improving their quality of life.

关 键 词：胱氨酸贮积症 范可尼综合征 终末期肾脏病 发病机制 诊断 治疗 

分 类 号：R596.2[医药卫生—内科学]