[1]赵先鹏.Wolfram综合征的治疗进展[J].国际内分泌代谢杂志,2021,41(05):430-433.[doi:10.3760/cma.j.cn121383-20200609-06022]
 Zhao Xianpeng..Research progress of Wolfram syndrome[J].International Journal of Endocrinology and Metabolism,2021,41(05):430-433.[doi:10.3760/cma.j.cn121383-20200609-06022]
点击复制

Wolfram综合征的治疗进展()
分享到:

《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
41
期数:
2021年05期
页码:
430-433
栏目:
“特殊类型糖尿病”专题
出版日期:
2021-09-30

文章信息/Info

Title:
Research progress of Wolfram syndrome
作者:
赵先鹏
博爱县中医院内科,焦作 454450
Author(s):
Zhao Xianpeng.
Department of Internal Medicine Boai Hospital of Traditional Chinese Medicine, Jiaozuo 454450, China
关键词:
Wolfram综合征 诊断 基因治疗
Keywords:
Wolfram syndrome Diagnosis Gene therapy
DOI:
10.3760/cma.j.cn121383-20200609-06022
摘要:
Wolfram综合征(WS)是一种罕见的遗传疾病,该病预后极差,传统观念认为尚无阻止或逆转此病进展的治疗方式。近年来发现,产前筛查与预防、早期诊断、多学科协作以及针对性治疗对WS病程的延缓和逆转有较大意义。因此,基于国内外现有文献研究,对WS的分型、临床表现、鉴别诊断进行综述,重点对近年来WS的治疗方法进行总结,为临床诊疗提供参考。
Abstract:
Wolfram syndrome(WS)is a rare genetic disease with poor prognosis. In the past, there has been no treatment to prevent or reverse the progression of the disease. Antenatal screening, early diagnosis, multidisciplinary collaboration and targeted therapy have been found to be of great significance in delaying and reversing the course of WS disease in recent years. So, WS classification, clinical manifestations and differential diagnosis are reviewed in this paper, with emphasis on the analysis and summary of WS treatment methods, in order to provide reference for clinical diagnosis and treatment of WS.

参考文献/References:

[1] Delprat B,Maurice T,Delettre C.Wolfram syndrome:MAMs'connection?[J].Cell Death Dis,2018,9(3):364.DOI:10.1038/s41419-018-0406-3.
[2] 王丹丹,吴继红.WFS1相关Wolfram综合征1型的遗传学与临床最新进展[J].中国眼耳鼻喉科杂志,2019,19(3):207-211.DOI:10.14166/j.issn.1671-2420.2019.03.021.
[3] Taraa W,Drachal E,Mazur A,et al.Wolfram Syndrome.Case report[J].Pediatr Endocrinol Diabetes Metab,2016,22(1):39-42.DOI:10.18544/PEDM-22.01.0049.
[4] Rigoli L,Aloi C,Salina A,et al.Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations[J].Pediatr Res,2020,87(3):456-462.DOI:10.1038/s41390-019-0487-4.
[5] Samara A,Rahn R,Neyman O,et al.Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses[J].Orphanet J Rare Dis,2019,14(1):279.DOI:10.1186/s13023-019-1260-9.
[6] Yeh CH,Shen ZQ,Hsiung SY,et al.Cisd2 is essential to delaying cardiac aging and to maintaining heart functions[J].PLoS Biol,2019,17(10):e3000508.DOI:10.1371/journal.pbio.3000508.
[7] Pallotta MT,Tascini G,Crispoldi R,et al.Wolfram syndrome,a rare neurodegenerative disease: from pathogenesis to future treatment perspectives[J].J Transl Med,2019,17(1):238.DOI:10.1186/s12967-019-1993-1.
[8] Wang DD,Hu FY,Gao FJ,et al.The precise diagnosis of Wolfram syndrome type 1 based on Next-Generation sequencing[J].Front Genet,2019,10:1217.DOI:10.3389/fgene.2019.01217.
[9] Toots M,Seppa K,Jagomäe T,et al.Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome[J].Sci Rep,2018,8(1):10183.DOI:10.1038/s41598-018-28314-z.
[10] Seppa K,Toots M,Reimets R,et al.GLP-1 receptor agonist liraglutide has a neuroprotective effect on an aged rat model of Wolfram syndrome[J].Sci Rep,2019,9(1):15742.DOI:10.1038/s41598-019-52295-2.
[11] Kondo M,Tanabe K,Amo-Shiinoki K,et al.Activation of GLP-1 receptor signalling alleviates cellular stresses and improves beta cell function in a mouse model of Wolfram syndrome[J].Diabetologia,2018,61(10):2189-2201.DOI:10.1007/s00125-018-4679-y.
[12] Sedman T,Rünkorg K,Krass M,et al.Exenatide is an effective antihyperglycaemic agent in a mouse model of Wolfram syndrome 1[J].J Diabetes Res,2016,2016:9239530.DOI:10.1155/2016/9239530.
[13] Toppings NB,Mcmillan JM,Au PYB,et al.Wolfram Syndrome:a case report and review of clinical manifestations,genetics pathophysiology,and potential therapies[J].Case Rep Endocrinol,2018,2018:9412676.DOI:10.1155/2018/9412676.
[14] So JS.Roles of endoplasmic reticulum stress in immune responses[J].Mol Cells,2018,41(8):705-716.DOI:10.14348/molcells.2018.0241.
[15] Shang L,Hua H,Foo K,et al.β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome[J].Diabetes,2014,63(3):923-933.DOI:10.2337/db13-0717.
[16] Abreu D,Stone SI,Pearson TS,et al.A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome[J]. JCI Insight,2021,6(15):e145188.DOI:10.1172/jci.insight.145188.
[17] Li Z,Wu F,Zhang X,et al.Valproate attenuates endoplasmic reticulum stress-induced apoptosis in SH-SY5Y cells via the AKT/GSK3βsignaling pathway[J].Int J Mol Sci,2017,18(2):315.DOI:10.3390/ijms18020315.
[18] Sun XY,Qin HJ,Zhang Z,et al.Valproate attenuates diabetic nephropathy through inhibition of endoplasmic reticulum stressinduced apoptosis[J].Mol Med Rep,2016,13(1):661-668.DOI:10.3892/mmr.2015.4580.
[19] Hamel C,Jagodzinska J,Bonner-Wersinger D,et al.Advances in gene therapy for Wolfram syndrome[J].Acta Ophthalmologica,2017,95(S259).DOI:10.1111/j.1755-3768.2017.03174.
[20] Urano F.Wolfram syndrome iPS cells:the first human cell model of endoplasmic reticulum disease[J].Diabetes,2014,63(3):844-846.DOI:10.2337/db13-1809.

相似文献/References:

[1]孙敏讷,段宇.老年亚临床甲状腺功能减退症的诊治特点[J].国际内分泌代谢杂志,2014,(06):411.[doi:10.3760/cma.j.issn.1673-4157.2014.06.014]
 Sun Minne,Duan Yu..Diagnositc and therapeutic characteristics of subclinical hypothyroidism in elderly people[J].International Journal of Endocrinology and Metabolism,2014,(05):411.[doi:10.3760/cma.j.issn.1673-4157.2014.06.014]
[2]胡欣 陈国芳 刘超.男性迟发型性腺功能减退症的诊断与治疗[J].国际内分泌代谢杂志,2015,(01):59.[doi:10.3760/cma.j.issn.1673-4157.2015.01.015]
 Hu Xin,Chen Guofang,Liu Chao..Diagnosis and therapeutic options for late-onset hypogonadism in men[J].International Journal of Endocrinology and Metabolism,2015,(05):59.[doi:10.3760/cma.j.issn.1673-4157.2015.01.015]
[3]刘晓蓉 朱德发.糖尿病下肢动脉病变的诊断与治疗[J].国际内分泌代谢杂志,2015,(05):327.[doi:DOI:10.3760/cma.j.issn.1673-4157.2015.05.010]
 Liu Xiaorong*,Zhu Defa..Diagnosis and treatment of lower extremity arterial disease in diabetes mellitus[J].International Journal of Endocrinology and Metabolism,2015,(05):327.[doi:DOI:10.3760/cma.j.issn.1673-4157.2015.05.010]
[4]曹琳,刘超.妊娠糖尿病诊疗的争议与共识[J].国际内分泌代谢杂志,2016,36(03):176.[doi:10.3760/cma.j.issn.1673-4157.2016.03.08]
 Cao Lin,Liu Chao..Controversy and concensus on the diagnosis and treatment of gestational diabetes mellitus[J].International Journal of Endocrinology and Metabolism,2016,36(05):176.[doi:10.3760/cma.j.issn.1673-4157.2016.03.08]
[5]毛斐,鹿斌,李益明.SUDOSCAN对糖尿病周围神经病变的诊断价值[J].国际内分泌代谢杂志,2016,36(05):331.[doi:10.3760/cma.j.issn.1673-4157.2016.05.12]
 Mao Fei,Lu Bin,Li Yiming.Diagnostic value of SUDOSCAN in detecting diabetic peripheral neuropathy[J].International Journal of Endocrinology and Metabolism,2016,36(05):331.[doi:10.3760/cma.j.issn.1673-4157.2016.05.12]
[6]郑仁东,刘超.糖尿病合并男性性腺功能减退症的识别与处理[J].国际内分泌代谢杂志,2016,36(06):394.[doi:10.3760/cma.j.issn.1673-4157.2016.06.09]
 Zheng Rendong,Liu Chao..Recognition and treatment of diabetes with male hypogonadism[J].International Journal of Endocrinology and Metabolism,2016,36(05):394.[doi:10.3760/cma.j.issn.1673-4157.2016.06.09]
[7]刘颖丰,刘芳.角膜共聚焦显微镜对糖尿病周围神经病变的诊断价值[J].国际内分泌代谢杂志,2017,37(03):178.[doi:10.3760/cma.j.issn.1673-4157.2017.03.009]
 Liu Yingfeng,Liu Fang..Diagnostic value of corneal confocal microscopy on diabetic peripheral neuropathy[J].International Journal of Endocrinology and Metabolism,2017,37(05):178.[doi:10.3760/cma.j.issn.1673-4157.2017.03.009]
[8]曹白露,邵加庆.SUDOSCAN在糖尿病微血管并发症早期诊断 及治疗评估中的作用[J].国际内分泌代谢杂志,2017,37(06):401.
 Cao Bailu,Shao Jiaqing..The value of SUDOSCAN in the early diagnosis and evaluation of diabetic microvascular complications[J].International Journal of Endocrinology and Metabolism,2017,37(05):401.
[9]赵万霞 王何婷 任月秋 崔景秋.糖尿病肾病早期标志物研究新进展[J].国际内分泌代谢杂志,2018,38(03):192.[doi:10.3760/cma.j.issn.1673-4157.2018.03.012]
 Zhao Wanxia*,Wang Heting,Ren Yueqiu,et al.Recent progress on the study of early marker for diabetic nephrophy[J].International Journal of Endocrinology and Metabolism,2018,38(05):192.[doi:10.3760/cma.j.issn.1673-4157.2018.03.012]
[10]邹梦晨 胡萍 罗祥蓉 蒋娅 高方 曹瑛.糖尿病足骨髓炎的诊疗进展[J].国际内分泌代谢杂志,2018,38(04):257.[doi:10.3760/cma.j.issn.1673-4157.2018.04.010]
 Zou Mengchen,Hu Ping,Luo Xiangrong,et al.Diagnosis and treatment of diabetic foot osteomyelitis[J].International Journal of Endocrinology and Metabolism,2018,38(05):257.[doi:10.3760/cma.j.issn.1673-4157.2018.04.010]

备注/Memo

备注/Memo:
通信作者:赵先鹏,Email:1620194763@qq.com
更新日期/Last Update: 2021-10-10