甲羟戊酸激酶缺乏症：临床最新综述及 SHARE 建议修订版。
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.
机构信息
Paediatric Centre, Semmelweis University, Budapest, Hungary.
Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
出版信息
Front Immunol. 2024 Nov 12;15:1466844. doi: 10.3389/fimmu.2024.1466844. eCollection 2024.
Abstract
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines. By describing molecular mechanisms, diagnostic dilemmas, and emerging therapies, this article should serve as a resource for clinicians and researchers, promoting a deeper understanding of MKD and guiding optimal patient care.
摘要
甲羟戊酸激酶缺乏症（MKD）是一种罕见的自身炎症性疾病，由 基因突变引起，破坏异戊烯生物合成，并影响细胞过程。本综述提供了对 MKD 的最新观点，包括其病因、发病机制、诊断方法和治疗策略。基于最近的研究和临床进展，我们的目标是弥合 2015 年 SHARE 指南中的知识空白。通过描述分子机制、诊断难题和新兴疗法，本文应成为临床医生和研究人员的资源，促进对 MKD 的深入了解并指导最佳患者护理。
相似文献
1
Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.甲羟戊酸激酶缺乏症：临床最新综述及 SHARE 建议修订版。
Front Immunol. 2024 Nov 12;15:1466844. doi: 10.3389/fimmu.2024.1466844. eCollection 2024.
2
Neurological manifestations in mevalonate kinase deficiency: A systematic review.肉碱棕榈酰基转移酶缺乏症的神经表现：系统综述。
Mol Genet Metab. 2022 Jun;136(2):85-93. doi: 10.1016/j.ymgme.2022.04.006. Epub 2022 Apr 30.
3
Recommendations for the management of autoinflammatory diseases.自身炎症性疾病管理建议。
Ann Rheum Dis. 2015 Sep;74(9):1636-44. doi: 10.1136/annrheumdis-2015-207546. Epub 2015 Jun 24.
4
Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.患者患有甲羟戊酸激酶缺乏症（MKD）并发血管炎：病例报告。
Pediatr Rheumatol Online J. 2021 Nov 22;19(1):161. doi: 10.1186/s12969-021-00645-8.
5
Clinical guidelines and payer policies on fusion for the treatment of chronic low back pain.临床指南和支付方政策对慢性下腰痛融合治疗的影响。
Spine (Phila Pa 1976). 2011 Oct 1;36(21 Suppl):S144-63. doi: 10.1097/BRS.0b013e31822ef5b4.
6
Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.酵母甲羟戊酸激酶缺陷导致的呼吸缺陷可能解释了 MKD 相关代谢紊乱在人类中的发生机制。
Curr Genet. 2018 Aug;64(4):871-881. doi: 10.1007/s00294-018-0803-2. Epub 2018 Jan 27.
7
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.多种患病个体的法尼基转移酶缺陷与缺陷蛋白棕榈酰化。
Front Immunol. 2019 Aug 14;10:1900. doi: 10.3389/fimmu.2019.01900. eCollection 2019.
8
A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.一种与 MVK 相关的新型错义突变与 MK 缺乏和发育性血细胞质异常性贫血有关。
Pediatrics. 2010 Apr;125(4):e964-8. doi: 10.1542/peds.2009-1774. Epub 2010 Mar 1.
9
A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.一项关于甲羟戊酸激酶缺乏症诊断前患者病程的回顾性调查。
Joint Bone Spine. 2015 Jul;82(4):240-4. doi: 10.1016/j.jbspin.2014.12.011. Epub 2015 Feb 9.
10
Incorporating considerations of cost-effectiveness, affordability, and resource implications in guideline development: article 6 in Integrating and coordinating efforts in COPD guideline development. An official ATS/ERS workshop report.将成本效益、可负担性和资源影响因素纳入指南制定中：COPD 指南制定中整合和协调工作的第 6 条。美国胸科学会/欧洲呼吸学会官方研讨会报告。
Proc Am Thorac Soc. 2012 Dec;9(5):251-5. doi: 10.1513/pats.201208-059ST.
引用本文的文献
1
Targeting Metastasis: Exploring the Impact of Microbial Infections on Cancer Progression Through Innovative Biological Models.靶向转移：通过创新生物学模型探索微生物感染对癌症进展的影响
Curr Microbiol. 2025 Jun 7;82(7):328. doi: 10.1007/s00284-025-04306-x.
2
Intrauterine intestinal obstruction in a preterm infant with severe mevalonate kinase deficiency - a case report.一名患有严重甲羟戊酸激酶缺乏症的早产儿的宫内肠梗阻——病例报告
Matern Health Neonatol Perinatol. 2025 Mar 5;11(1):8. doi: 10.1186/s40748-025-00207-w.
本文引用的文献
1
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.卡那单抗治疗未分化自身炎症性疾病的安全性和有效性：一项双中心回顾性队列研究的数据
Front Med (Lausanne). 2023 Nov 15;10:1257045. doi: 10.3389/fmed.2023.1257045. eCollection 2023.
2
A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.一种新的 PMVK 纯合变异与增强的 IL1β 分泌和类高 IgD 综合征表型相关。
Clin Genet. 2024 Mar;105(3):302-307. doi: 10.1111/cge.14451. Epub 2023 Nov 28.
3
Autoinflammatory Diseases and COVID-19 Vaccination: Analysis of SARS-CoV-2 Anti-S-RBD IgG Levels in a Cohort of Patients Receiving IL-1 Inhibitors.自身炎症性疾病与新冠疫苗接种：一组接受白细胞介素-1抑制剂治疗患者的严重急性呼吸综合征冠状病毒2抗刺突蛋白受体结合域免疫球蛋白G水平分析
J Clin Med. 2023 Jul 18;12(14):4741. doi: 10.3390/jcm12144741.
4
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.磷酸甲羟戊酸激酶缺乏症扩大了系统性自身炎症性疾病的遗传谱。
J Allergy Clin Immunol. 2023 Oct;152(4):1025-1031.e2. doi: 10.1016/j.jaci.2023.06.013. Epub 2023 Jun 25.
5
CannaCount: an improved metric for quantifying estimates of maximum possible cannabinoid exposure.大麻素暴露量估计的改进指标：CannaCount
Sci Rep. 2023 Apr 11;13(1):5869. doi: 10.1038/s41598-023-32671-9.
6
The assessment of autoinflammatory disease classification criteria (Eurofever/PRINTO) in a real-life cohort.自身炎症性疾病分类标准（Eurofever/PRINTO）在真实队列中的评估。
Clin Rheumatol. 2023 Jun;42(6):1645-1653. doi: 10.1007/s10067-023-06557-0. Epub 2023 Feb 24.
7
High serum immunoglobulin D levels in systemic lupus erythematosus: more to be found?系统性红斑狼疮患者血清免疫球蛋白 D 水平升高：还有更多发现？
Clin Rheumatol. 2023 Apr;42(4):1069-1076. doi: 10.1007/s10067-022-06457-9. Epub 2022 Dec 30.
8
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation.可能由于磷酸甲羟戊酸激酶基因突变的复合杂合子导致的一种新的自身炎症性疾病。
Joint Bone Spine. 2023 Jan;90(1):105490. doi: 10.1016/j.jbspin.2022.105490. Epub 2022 Nov 18.
9
Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review.高免疫球蛋白D综合征所致复发性巨噬细胞活化综合征：病例回顾
Clin Rheumatol. 2023 Jan;42(1):277-283. doi: 10.1007/s10067-022-06384-9. Epub 2022 Sep 23.
10
Use of the Auto-inflammatory Disease Activity Index to monitor disease activity in patients with colchicine-resistant Familial Mediterranean Fever, Mevalonate Kinase Deficiency, and TRAPS treated with canakinumab.使用自身炎症性疾病活动指数监测秋水仙碱抵抗的家族性地中海热、甲羟戊酸激酶缺乏症和 TRAPS 患者在用卡那单抗治疗时的疾病活动。
Joint Bone Spine. 2022 Nov;89(6):105448. doi: 10.1016/j.jbspin.2022.105448. Epub 2022 Aug 6.
Zotero 插件