-
摘要: 胱氨酸尿症作为一种常染色体隐性遗传性疾病, 是胱氨酸结石最常见的病因, 具有发病时间早, 进展快速的特点。部分病例早期即合并急性肾功能不全或衰竭。目前最新的检测方式包括衰减全反射-傅里叶变换红外光谱(ATR-FTIR)联合高效液相色谱结合荧光检测(HPLC-FL)、新型苯并咪唑探针和便携式荧光仪等具有高特异度的方法。最新的治疗包括胱氨酸晶体抑制剂、重组酶修复蛋白错误折叠、补硒辅助抑制胱氨酸结晶形成以及基因治疗等。在发达国家已经形成胱氨酸尿症的规范化治疗, 但在我国目前针对胱氨酸结石的规范化诊疗仍然不尽如人意。本文就胱氨酸结石的最新诊疗进展进行阐述与总结。Abstract: Cystinuria, an autosomal recessive disorder, is the most common cause of cystine calculi and is characterized by early onset and rapid progression. Acute renal insufficiency or failure at an early stage has been observed in some patients. The latest detection methods include attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) combined with high-performance liquid chromatography coupled with fluorescence detection (HPLC-FL), novel benzimidazole probes, and portable fluorometry with high specificity. The newest strategies include cystine crystal inhibitors, recombinant enzymes to repair protein misfolding, selenium supplementation for inhibiting cystine crystal formation, as well as gene therapy. Standardized treatment of cystinuria has been well-established in developed countries, but that of cystine stones has been still unsatisfied in China. The latest advances in the treatment of cystine stones are described and summarized in the manuscript.
-
Key words:
- cystinuria /
- cystine calculi
-
-
[1] Nagamori S, Wiriyasermkul P, Guarch ME, et al. Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1[J]. Proc Natl Acad Sci U S A, 2016, 113(3): 775-780. doi: 10.1073/pnas.1519959113
[2] Servais A, Thomas K, Dello Strologo L, et al. Cystinuria: clinical practice recommendation[J]. Kidney Int, 2021, 99(1): 48-58. doi: 10.1016/j.kint.2020.06.035
[3] Moore SL, Somani BK, Cook P. Journey of a cystinuric patient with a long-term follow-up from a medical stone clinic: necessity to be SaFER(stone and fragments entirely removed)[J]. Urolithiasis, 2019, 47(2): 165-170. doi: 10.1007/s00240-018-1059-5
[4] Iremashvili V, Li S, Penniston KL, et al. Role of Residual Fragments on the Risk of Repeat Surgery after Flexible Ureteroscopy and Laser Lithotripsy: Single Center Study[J]. J Urol, 2019, 201(2): 358-363. doi: 10.1016/j.juro.2018.09.053
[5] Moussa M, Papatsoris AG, Abou Chakra M, et al. Update on cystine stones: current and future concepts in treatment[J]. Intractable Rare Dis Res, 2020, 9(2): 71-78. doi: 10.5582/irdr.2020.03006
[6] Prot-Bertoye C, Daudon M, Tostivint I, et al. Cystinuria[J]. Nephrol Ther, 2021, 17: 100-107. doi: 10.1016/j.nephro.2020.03.001
[7] Rezaee ME, Rule AD, Pais VM Jr. What are the main challenges to the pharmacological management of cystinuria?[J]. Expert Opin Pharmacother, 2020, 21(2): 131-133. doi: 10.1080/14656566.2019.1691522
[8] Yeom GS, Song IH, Warkad SD, et al. Development of a Novel Benzimidazole-Based Probe and Portable Fluorimeter for the Detection of Cysteine in Human Urine[J]. Biosensors(Basel), 2021, 11(11): 420. doi: 10.3390/bios11110420
[9] Lee MH, Sahota A, Ward MD, et al. Cystine growth inhibition through molecular mimicry: a new paradigm for the prevention of crystal diseases[J]. Curr Rheumatol Rep, 2015, 17(5): 33. doi: 10.1007/s11926-015-0510-7
[10] López de Heredia M, Muñoz L, Carru C, et al. S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model[J]. Antioxidants(Basel), 2021, 10(9): 1424.
[11] Zhao Y, Fang X, Fan Y, et al. Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis[J]. World J Urol, 2021, 39(7): 2759-2765. doi: 10.1007/s00345-020-03449-9
[12] Rudenko V, Serova N, Kapanadze L, et al. Dual-Energy Computed Tomography for Stone Type Assessment: A Pilot Study of Dual-Energy Computed Tomography with Five Indices[J]. J Endourol, 2020, 34(9): 893-899. doi: 10.1089/end.2020.0243
[13] Shalini S, Arunachalam VK, Varatharajaperumal RK, et al. The role of third-generation dual-source dual-energy computed tomography in characterizing the composition of renal stones with infrared spectroscopy as the reference standard[J]. Pol J Radiol, 2022, 87: e172-e176. doi: 10.5114/pjr.2022.114841
[14] El Beze J, Mazeaud C, Daul C, et al. Evaluation and understanding of automated urinary stone recognition methods[J]. BJU Int, 2022, 130(6): 786-798. doi: 10.1111/bju.15767
[15] Yang Y, Albanyan H, Lee S, et al. Design, synthesis, and evaluation of l-cystine diamides as l-cystine crystallization inhibitors for cystinuria[J]. Bioorg Med Chem Lett, 2018, 28(8): 1303-1308. doi: 10.1016/j.bmcl.2018.03.024
[16] Gillion V, Saussez TP, Van Nieuwenhove S, et al. Extremely rapid stone formation in cystinuria: look out for dietary supplements![J]. Clin Kidney J, 2021, 14(6): 1694-1696. doi: 10.1093/ckj/sfab013
[17] Rhodes HL, Yarram-Smith L, Rice SJ, et al. Clinical and genetic analysis of patients with cystinuria in the United Kingdom[J]. Clin J Am Soc Nephrol, 2015, 10(7): 1235-1245. doi: 10.2215/CJN.10981114
[18] Prot-Bertoye C, Lebbah S, Daudon M, et al. Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France[J]. BJU Int, 2019, 124(5): 849-861. doi: 10.1111/bju.14721
[19] Kowalczyk NS, Zisman AL. Cystinuria: Review of a Life-long and Frustrating Disease[J]. Yale J Biol Med, 2021, 94(4): 681-686.
[20] Kova íková S, Maršálek P, Vrbová K. Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?[J]. Animals(Basel), 2021, 11(8): 2437.
[21] Takahashi T, Somiya S, Ito K, et al. The Long-Term Follow-Up of Patients with Cystine Stones: A Single-Center Experience for 13 Years[J]. J Clin Med, 2021, 10(7): 1336. doi: 10.3390/jcm10071336
[22] Vinit N, Khoury A, Lopez P, et al. Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis[J]. Front Pediatr, 2021, 9: 763317. doi: 10.3389/fped.2021.763317
[23] Shah TT, Gao C, Peters M, et al. Factors associated with spontaneous stone passage in a contemporary cohort of patients presenting with acute ureteric colic: results from the Multi-centre cohort study evaluating the role of Inflammatory Markers In patients presenting with acute ureteric Colic(MIMIC)study[J]. BJU Int, 2019, 124(3): 504-513. doi: 10.1111/bju.14777
[24] Kallidonis P, Ntasiotis P, Knoll T, et al. Minimally Invasive Surgical Ureterolithotomy Versus Ureteroscopic Lithotripsy for Large Ureteric Stones: A Systematic Review and Meta-analysis of the Literature[J]. Eur Urol Focus, 2017, 3(6): 554-566. doi: 10.1016/j.euf.2017.04.006
[25] 卢俊霖, 余虓, 李聪, 等. 腹腔镜下输尿管切开取石术的适应证再探讨: 附63例报告[J]. 临床泌尿外科杂志, 2021, 36(5): 382-385. https://lcmw.chinajournal.net.cn/WKC/WebPublication/paperDigest.aspx?paperID=77a5f391-9159-4cc3-ac8e-9641b2449d6e
[26] Sharma G, Pareek T, Tyagi S, et al. Comparison of efficacy and safety of various management options for large upper ureteric stones a systematic review and network meta-analysis[J]. Sci Rep, 2021, 11(1): 11811. doi: 10.1038/s41598-021-91364-3
[27] 邵建国, 侯飓, 宋飞, 等. 上尿路胱氨酸结石诊治22例报告[J]. 中国微创外科杂志, 2015, 15(7): 622-623, 627. https://www.cnki.com.cn/Article/CJFDTOTAL-ZWWK201507015.htm
[28] Moore SL, Cook P, de Coninck V, et al. Outcomes and Long-term Follow-up of Patients with Cystine Stones: a Systematic Review[J]. Curr Urol Rep, 2019, 20(6): 27. doi: 10.1007/s11934-019-0891-7
[29] 王政昊, 白云金, 曹德宏, 等. 胱氨酸尿症的发病机制和基因治疗前景[J]. 实用医院临床杂志, 2020, 17(2): 256-258. https://www.cnki.com.cn/Article/CJFDTOTAL-YYLC202002075.htm
-
计量
- 文章访问数: 935
- PDF下载数: 326
- 施引文献: 0
下载: