中国卒中杂志 ›› 2024, Vol. 19 ›› Issue (7): 747-754.DOI: 10.3969/j.issn.1673-5765.2024.07.003
烟雾血管病与免疫相关疾病
汪敏杰1,2,韩聪1,2,段炼1,2
1 北京 100039 中国人民解放军总医院第一医学中心神经外科医学部
2 中国人民解放军总医院第五医学中心神经外科
收稿日期:
2024-04-30
出版日期:
2024-07-20
发布日期:
2024-07-20
通讯作者:
段炼 duanlian307@sina.com
Moyamoya Angiopathy and Immune-Related Diseases
WANG Minjie1,2, HAN Cong1,2, DUAN Lian1,2
1 Department of Neurosurgery, The First Medical Center of Chinese PLA General Hospital, Beijing 100039, China
2 Department of Neurosurgery, The Fifth Medical Center of Chinese PLA General Hospital, Beijing 100071, China
Received:
2024-04-30
Online:
2024-07-20
Published:
2024-07-20
Contact:
DUAN Lian, E-mail: duanlian307@sina.com
摘要: 烟雾血管病是一类病因不明的颅内大动脉闭塞性疾病,主要表现为颈内动脉系统慢性狭窄、闭塞和异常血管网的形成。临床和流行病学研究发现,烟雾血管病患者具有较高的免疫相关疾病患病率,提示免疫因素在烟雾血管病的发生、发展中扮演了重要角色。本文旨在对烟雾血管病与感染、血管炎及自身免疫性疾病等免疫相关疾病的相关性研究展开综述,探讨免疫相关疾病参与烟雾血管病发病的潜在机制。
中图分类号:
汪敏杰, 韩聪, 段炼.
烟雾血管病与免疫相关疾病 [J]. 中国卒中杂志, 2024, 19(7): 747-754.
WANG Minjie, HAN Cong, DUAN Lian.
Moyamoya Angiopathy and Immune-Related Diseases [J]. Chinese Journal of Stroke, 2024, 19(7): 747-754.
[1] SCOTT R M,SMITH E R. Moyamoya disease and Moyamoya syndrome[J]. N Engl J Med,2009,360(12):1226-1237. [2] SUZUKI J,TAKAKU A. Cerebrovascular “Moyamoya” disease. Disease showing abnormal net-like vessels in base of brain[J]. Arch Neurol,1969,20(3):288-299. [3] MUGIKURA S,TAKAHASHI S. Posterior circulation in Moyamoya[J]. J Neurosurg,2014,120(5):1240-1241. [4] BERSANO A,KHAN N,FUENTES B,et al. European Stroke Organisation(ESO)guidelines on Moyamoya angiopathy endorsed by vascular european reference network(VASCERN)[J]. Eur Stroke J,2023,8(1):55-84. [5] LIU X M,RUAN X Z,CAI Z,et al. Moyamoya disease caused by leptospiral cerebral arteritis[J]. Chin Med J(Engl),1980,93(9):599-604. [6] BURKE G M,BURKE A M,SHERMA A K,et al. Moyamoya disease:a summary[J/OL]. Neurosurg Focus,2009,26(4):E11[2024-03-22]. http://doi.org/10.3171/2009.1.FOCUS08310. [7] TANIGAWARA T,YAMADA H,SAKAI N,et al. Studies on cytomegalovirus and Epstein-Barr virus infection in Moyamoya disease[J/OL]. Clin Neurol Neurosurg,1997,99 Suppl 2:S225-S228[2024-03-22]. http://doi.org/10.1016/s0303-8467(97)00049-8. [8] PALACIO S,HART R G,VOLLMER D G,et al. Late-developing cerebral arteropathy after pyogenic meningitis[J]. Arch Neurol,2003,60(3):431-433. [9] CZARTOSKI T,HALLAM D,LACY J M,et al. Postinfectious vasculopathy with evolution to Moyamoya syndrome[J]. J Neurol Neurosurg Psychiatry,2005,76(2):256-259. [10] KHAN F Y,KAMAL H,MUSA R,et al. Moyamoya syndrome in a known case of pulmonary tuberculosis[J]. J Neurosci Rural Pract,2010,1(2):105-108. [11] GHOSH R,DUBEY S,KANTI RAY B,et al. COVID-19 presenting with thalamic hemorrhage unmasking Moyamoya angiopathy[J]. Can J Neurol Sci,2020,47(6):849-851. [12] EZURA M,FUJIWARA S,NOSE M,et al. Attempts to induce immune-mediated cerebral arterial injury for an experimental model of Moyamoya disease[J]. Childs Nerv Syst,1992,8(5):263-267. [13] 张海鸥,饶明俐,张淑琴,等. 烟雾病病因和发病机理的实验研究[J]. 中华神经科杂志,1996,29(3):51-54,66. ZHANG H O,RAO M L,ZHANG S Q,et al. An experimental study on the etiology and pathogenesis of Moyamoya disease[J]. Chin J Neurol,1996,29(3):51-54,66. [14] ELEFTHERIOU D,DILLON M J,BROGAN P A. Advances in childhood vasculitis[J]. Curr Opin Rheumatol,2009,21(4):411-418. [15] LUO Y T,CAO Z X,WU S Q,et al. Ring finger protein 213 in Moyamoya disease with pulmonary arterial hypertension:a mini-review[J/OL]. Front Neurol,2022,13:843927[2024-03-22]. http://doi.org/10.3389/fneur.2022.843927. [16] VAN DER VLIET J A,ZEILSTRA D J,VAN ROYE S F,et al. Renal artery stenosis in Moyamoya syndrome[J]. J Cardiovasc Surg(Torino),1994,35(5):441-443. [17] KAWASAKI T,ARAKAWA Y,SUGINO T,et al. Three cases of Moyamoya disease with a history of Kawasaki disease[J]. No Shinkei Geka,2015,43(11):1005-1010. [18] CHEN J B,LIU Y,ZHOU L X,et al. Prevalence of autoimmune disease in Moyamoya disease patients in Western Chinese population[J]. J Neurol Sci,2015,351(1/2):184-186. [19] CHEN J B,LIU Y,ZHOU L X,et al. Increased prevalence of autoimmune disease in patients with unilateral compared with bilateral Moyamoya disease[J]. J Neurosurg,2016,124(5):1215-1220. [20] BOWER R S,MALLORY G W,NWOJO M,et al. Moyamoya disease in a primarily white,Midwestern US population:increased prevalence of autoimmune disease[J]. Stroke,2013,44(7):1997-1999. [21] LI D S,YANG W Z,XIAN P,et al. Coexistence of Moyamoya and Graves’ diseases:the clinical characteristics and treatment effects of 21 Chinese patients[J]. Clin Neurol Neurosurg,2013,115(9):1647-1652. [22] NI J,ZHOU L X,WEI Y P,et al. Moyamoya syndrome associated with Graves’ disease:a case series study[J/OL]. Ann Transl Med,2014,2(8):77[2024-03-22]. http://doi.org/10.3978/j.issn.2305-5839.2014.08.03. [23] OHBA S,NAKAGAWA T,MURAKAMI H. Concurrent Graves’ disease and intracranial arterial stenosis/occlusion:special considerations regarding the state of thyroid function,etiology,and treatment[J]. Neurosurg Rev,2011,34(3):297-304. [24] PACIARONI M,MICHELI S,CASO V,et al. Angiographic findings of Moyamoya vessels in a patient with rheumatoid arthritis[J]. Cerebrovasc Dis,2005,20(5):415-416. [25] TRUEDSSON L,BENGTSSON A A,STURFELT G. Complement deficiencies and systemic lupus erythematosus[J]. Autoimmunity,2007,40(8):560-566. [26] MATSUKI Y,KAWAKAMI M,ISHIZUKA T,et al. SLE and Sjögren’s syndrome associated with unilateral Moyamoya vessels in cerebral arteries[J]. Scand J Rheumatol,1997,26(5):392-394. [27] YAMASHITA Y,KUSAGA A,KOGA Y,et al. Noonan syndrome,Moyamoya-like vascular changes,and antiphospholipid syndrome[J]. Pediatr Neurol,2004,31(5):364-366. [28] CHO S M,DI LORENZO R,MYLES J L,et al. Severe hyperhomocysteinemia manifesting as Moyamoya vasculopathy and Henoch-Schonlein purpura[J]. Neurology,2018,91(7):321-323. [29] DEGIRMENCI E,BIR L S,YAGCı B,et al. Moyamoya syndrome or Behçet’s disease?[J]. Int J Rheum Dis,2014,17(8):920-922. [30] PREZIOSA P,MARTINELLI V,FERRè L,et al. Moyamoya disease mimicking the first attack of multiple sclerosis[J]. J Neurol,2017,264(5):1005-1007. [31] UTKU U,ASIL T,CELIK Y,et al. Reversible MR angiographic findings in a patient with autoimmune Graves disease[J]. AJNR Am J Neuroradiol,2004,25(9):1541-1543. [32] DUAN L,WEI L,TIAN Y H,et al. Novel susceptibility loci for Moyamoya disease revealed by a genome-wide association study[J]. Stroke,2018,49(1):11-18. [33] LIU W Y,MORITO D,TAKASHIMA S,et al. Identification of RNF213 as a susceptibility gene for Moyamoya disease and its possible role in vascular development[J/OL]. PLoS One,2011,6(7):e22542[2024-03-22]. http://doi.org/10.1371/journal.pone.0022542. [34] KAMADA F,AOKI Y,NARISAWA A,et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene[J]. J Hum Genet,2011,56(1):34-40. [35] ASSELMAN C,HEMELSOET D,EGGERMONT D,et al. Moyamoya disease emerging as an immune-related angiopathy[J]. Trends Mol Med,2022,28(11):939-950. [36] SHOEMAKER L D,CLARK M J,PATWARDHAN A,et al. Disease variant landscape of a large multiethnic population of Moyamoya patients by exome sequencing[J]. G3(Bethesda),2015,6(1):41-49. [37] LIU W Y,HITOMI T,KOBAYASHI H,et al. Distribution of Moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations[J]. Neurol Med Chir(Tokyo),2012,52(5):299-303. [38] CECCHI A C,GUO D C,REN Z,et al. RNF213 rare variants in an ethnically diverse population with Moyamoya disease[J]. Stroke,2014,45(11):3200-3207. [39] HOUZELSTEIN D,SIMON-CHAZOTTES D,BATISTA L,et al. The ring finger protein 213 gene(RNF213)contributes to rift valley fever resistance in mice[J]. Mamm Genome,2021,32(1):30-37. [40] NOAD J,VON DER MALSBURG A,PATHE C,et al. LUBAC-synthesized linear ubiquitin chains restrict cytosol-invading bacteria by activating autophagy and NF-κB[J/OL]. Nat Microbiol,2017,2:17063[2024-03-22]. http://doi.org/10.1038/nmicrobiol.2017.63. [41] VAN WIJK S J L,FRICKE F,HERHAUS L,et al. Linear ubiquitination of cytosolic salmonella typhimurium activates NF-κB and restricts bacterial proliferation[J/OL]. Nat Microbiol,2017,2:17066[2024-03-22]. http://doi.org/10.1038/nmicrobiol.2017.66. [42] OTTEN E G,WERNER E,CRESPILLO-CASADO A,et al. Ubiquitylation of lipopolysaccharide by RNF213 during bacterial infection[J]. Nature,2021,594(7861):111-116. [43] THERY F,MARTINA L,ASSELMAN C,et al. Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity[J/OL]. Nat Commun,2021,12(1):5772[2024-03-22]. http://doi.org/10.1038/s41467-021-26061-w. [44] TASHIRO R,NIIZUMA K,KASAMATSU J,et al. Dysregulation of RNF213 gene contributes to T cell response via antigen uptake,processing,and presentation[J]. J Cell Physiol,2021,236(11):7554-7564. [45] KITAHARA T,OKUMURA K,SEMBA A,et al. Genetic and immunologic analysis on Moyamoya[J]. J Neurol Neurosurg Psychiatry,1982,45(11):1048-1052. [46] AOYAGI M,OGAMI K,MATSUSHIMA Y,et al. Human leukocyte antigen in patients with Moyamoya disease[J]. Stroke,1995,26(3):415-417. [47] INOUE T K,IKEZAKI K,SASAZUKI T,et al. DNA typing of HLA in the patients with Moyamoya disease[J]. Jpn J Hum Genet,1997,42(4):507-515. [48] WAN J,LING W,ZHENGSHAN Z,et al. Association of HLA-DQA2 and HLA-B with Moyamoya disease in the Chinese Han population[J/OL]. Neurol Genet,2021,7(3):e592[2024-03-22]. http://doi.org/10.1212/NXG.0000000000000592. [49] KRAEMER M,HORN P A,RODER C,et al. Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic Moyamoya angiopathy[J]. Acta Neurochir(Wien),2012,154(3):445-454. [50] HONG S H,WANG K C,KIM S K,et al. Association of HLA-DR and -DQ genes with familial Moyamoya disease in Koreans[J]. J Korean Neurosurg Soc,2009,46(6):558-563. [51] TASHIRO R,NIIZUMA K,KHOR S S,et al. Identification of HLA-DRB1*04:10 allele as risk allele for Japanese Moyamoya disease and its association with autoimmune thyroid disease:a case-control study[J/OL]. PLoS One,2019,14(8):e0220858[2024-03-22]. http://doi.org/10.1371/journal.pone.0220858. [52] SALAZAR M,VARELA A,RAMIREZ L A,et al. Association of HLA-DRB1*1602 and DRB1*1001 with Takayasu arteritis in Colombian mestizos as markers of Amerindian ancestry[J/OL]. Int J Cardiol,2000,75 Suppl 1:S113-S116[2024-03-22]. http://doi.org/10.1016/s0167-5273(00)00181-9. [53] HIROHATA S,INOUE T,ITO K. Development of rheumatoid arthritis after chronic hepatitis caused by hepatitis C virus infection[J]. Intern Med,1992,31(4):493-495. [54] ROY V,ROSS J P,PéPIN R,et al. Moyamoya disease susceptibility gene RNF213 regulates endothelial barrier function[J]. Stroke,2022,53(4):1263-1275. [55] LOUVRIER C,AWAD F,COSNES A,et al. RNF213-associated urticarial lesions with hypercytokinemia[J]. J Allergy Clin Immunol,2022,150(6):1545-1555. [56] SHEN W J,LIAO Y J,GARCIA R,et al. Association of CD40 SNPs with Moyamoya in a Chinese children population[J]. Br J Neurosurg,2019,33(4):398-401. [57] ITO A,FUJIMURA M,NIIZUMA K,et al. Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for Moyamoya disease[J/OL]. Brain Res,2015,1594:310-320[2024-03-22]. http://doi.org/10.1016/j.brainres.2014.11.014. [58] SUGIHARA M,MORITO D,AINUKI S,et al. The AAA+ ATPase/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets[J]. J Cell Biol,2019,218(3):949-960. [59] TAKEDA M,TEZUKA T,KIM M,et al. Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner[J]. Biochem Biophys Res Commun,2020,525(3):668-674. [60] YE F,NIU X Y,LIANG F,et al. RNF213 loss-of-function promotes pathological angiogenesis in Moyamoya disease via the hippo pathway[J]. Brain,2023,146(11):4674-4689. [61] ZHANG L Y,RASHAD S,ZHOU Y,et al. RNF213 loss of function reshapes vascular transcriptome and spliceosome leading to disrupted angiogenesis and aggravated vascular inflammatory responses[J]. J Cereb Blood Flow Metab,2022,42(11):2107-2122. [62] BANH R S,IORIO C,MARCOTTE R,et al. PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia[J]. Nat Cell Biol,2016,18(7):803-813. [63] SIGDEL T K,SHOEMAKER L D,CHEN R,et al. Immune response profiling identifies autoantibodies specific to Moyamoya patients[J/OL]. Orphanet J Rare Dis,2013,8:45[2024-03-22]. http://doi.org/10.1186/1750-1172-8-45. |
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