以呼吸衰竭起病的线粒体肌病1例及文献回顾

doi:10.6040/j.issn.1671-7554.0.2021.1195

摘要/Abstract

摘要： 目的分析以呼吸衰竭起病的线粒体肌病患者的临床特点、诊断及治疗。方法对1例以呼吸衰竭起病的线粒体肌病患者进行资料收集和分析,检索病例报道并回顾文献。结果共检索出12例以Ⅱ型呼吸衰竭起病的患者,其中男性7例,女性5例,发病年龄为16~70岁;8例患者乳酸升高,4例患者肌酸激酶升高;1/3患者的肌电图未见异常,50%患者检测到线粒体DNA A3243G突变,结合患者临床表现及肌肉活检病理可确诊线粒体肌病。目前无特效治疗方式。结论临床中不明原因的Ⅱ型呼吸衰竭需要考虑线粒体肌病的可能性。

关键词: 线粒体肌病, 呼吸衰竭, 基因突变, 诊断, 治疗

Abstract: Objective To analyze the clinical characteristics, diagnosis, and treatment strategies of patients with mitochondrial myopathy beginning with respiratory failure. Methods A case of mitochondrial myopathy beginning with respiratory failure was analyzed, previous case reports were retrieved, and the literature was reviewed. Results Twelve patients onset of type Ⅱ respiratory failure were retrieved, of which seven were males and five were females, with the age of onset ranging from 16 to 70 years old. Eight patients had elevated lactic acid, and four patients had elevated creatine kinase. One-third of the patients have normal electromyogram. The A3243G mutation in mitochondrial DNA was detected in 50% of patients. Mitochondrial myopathy could be diagnosed by combining the patients clinical manifestations and muscle biopsy pathology. There was currently no specific treatment. Conclusion In clinical type Ⅱ respiratory failure of unknown cause, the possibility of mitochondrial myopathy needs to be considered.

Key words: Mitochondrial myopathy, Respiratory failure, Gene mutation, Diagnosis, Treatment

中图分类号:

R563.8

潘鹏飞,徐立升,纪坤乾,王得翔,李玉. 以呼吸衰竭起病的线粒体肌病1例及文献回顾[J]. 山东大学学报 (医学版), 2022, 60(2): 54-59.

PAN Pengfei, XU Lisheng, JI Kunqian, WANG Dexiang, LI Yu. Mitochondrial myopathy beginning with respiratory failure: one case and literature review[J]. Journal of Shandong University (Health Sciences), 2022, 60(2): 54-59.

参考文献

[1] Parikh S, Goldstein A, Koenig MK, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society [J]. Genet Med, 2015, 17(9): 689-701.
[2] Scheffler IE. A century of mitochondrial research: achievements and perspectives [J]. Mitochondrion, 2001, 1(1): 3-31.
[3] DiMauro S, Gurgel-Giannetti J. The expanding phenotype of mitochondrial myopathy [J]. Curr Opin Neurol, 2005, 18(5): 538-542.
[4] Higashikata T, Koyama J, Shimada H, et al. An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR))gene presenting cardiac dysfunction as the main symptom [J]. Intern Med, 2001, 40(5): 405-408.
[5] Pan X, Wang L, Fei G, et al. Acute respiratory failure is the initial manifestation in the adult-onset A3243G tRNALeu mtDNA mutation: a case report and the literature review [J]. Front Neurol, 2019, 10: 780. doi: 10.3389/fneur.2019.00780.
[6] OBrien A, Blaivas M, Albers J, et al. A case of respiratory muscle weakness due to cytochrome C oxidase enzyme deficiency [J]. Eur Respir J, 1998, 12(3): 742-744.
[7] Cros D, Palliyath S, DiMauro S, et al. Respiratory failure revealing mitochondrial myopathy in adults [J]. Chest, 1992, 101(3): 824-828.
[8] Chang KC, Mak YF, Yu WC, et al. Respiratory insufficiency in a Chinese adult with mitochondrial myopathy [J]. Hong Kong Med J, 2002, 8(2): 137-140.
[9] Kim GW, Kim SM, Sunwoo IN, et al. Two cases of mitochondrial myopathy with predominant respiratory dysfunction [J]. Yonsei Med J, 1991, 32(2): 184-189.
[10] Mancuso M, Orsucci D, Ienco EC, et al. An “inflammatory” mitochondrial myopathy. A case report [J]. Neuromuscul Disord, 2013, 23(11): 907-910.
[11] Finsterer J, Rauschka H, Segal L, et al. Affection of the respiratory muscles in combined complex I and IV deficiency [J]. Open Neurol J, 2017, 11: 1-6. doi: 10.2174/1874205X01711010001.
[12] Kamakura K, Abe H, Tadano Y, et al. Recurrent respiratory failure in a patient with 3243 mutation in mitochondrial DNA [J]. J Neurol, 1995, 242(4): 253-255.
[13] Yang CC, Hwang CC, Pang CY, et al. Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene [J]. J Formos Med Assoc, 1998, 97(10): 715-719.
[14] 袁云.中国神经系统线粒体病的诊治指南[J].中华神经科杂志, 2015, 48(12): 1045-1051.
[15] Manwaring N, Jones MM, Wang JJ, et al. Population prevalence of the MELAS A3243G mutation [J]. Mitochondrion, 2007, 7(3): 230-233.
[16] Elliott HR, Samuels DC, Eden JA, et al. Pathogenic mitochondrial DNA mutations are common in the general population [J]. Am J Hum Genet, 2008, 83(2): 254-260.
[17] Nesbitt V, Pitceathly RDS, Turnbull DM, et al. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation-implications for diagnosis and management [J]. J Neurol Neurosurg Psychiatry, 2013, 84(8): 936-938.
[18] Boenzi S, Diodato D. Biomarkers for mitochondrial energy metabolism diseases [J]. Essays Biochem, 2018, 62(3): 443-454.
[19] Lalani SR, Vladutiu GD, Plunkett K, et al. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency [J]. Arch Neurol, 2005, 62(2): 317-320.
[20] Leshinsky-Silver E, Michelson M, Cohen S, et al. A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion [J]. Eur J Paediatr Neurol, 2008, 12(4): 309-313.
[21] Seneca S, Goemans N, Van Coster R, et al. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy [J]. Am J Med Genet A, 2005, 137(2): 170-175.
[22] Anitori R, Manning K, Quan F, et al. Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes [J]. Mol Genet Metab, 2005,84(2): 176-188.
[23] Kleinle S, Schneider V, Moosmann P, et al. A novel mitochondrial tRNA(Phe)mutation inhibiting anticodon stem formation associated with a muscle disease [J]. Biochem Biophys Res Commun, 1998, 247(1): 112-115.
[24] Spinazzola A, Carrara F, Mora M, et al. Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation [J]. Neuromuscul Disord, 2004, 14(12): 815-817.
[25] Carroll JE, Zwillich C, Weil JV, et al. Depressed ventilatory response in oculocraniosomatic neuromuscular disease [J]. Neurology, 1976, 26(2): 140-146.
[26] Barohn RJ, Clanton T, Sahenk Z, et al. Recurrent respiratory insufficiency and depressed ventilatory drive complicating mitochondrial myopathies [J]. Neurology, 1990, 40(1): 103-106.
[27] Hargreaves IP. Coenzyme Q10 as a therapy for mitochondrial disease [J]. Int J Biochem Cell Biol, 2014, 49: 105-111. doi: 10.1016/j.biocel.2014.01.020.
[28] Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al. A randomized placebo-controlled trial of idebenone in Lebers hereditary optic neuropathy [J]. Brain, 2011, 134(Pt 9): 2677-2686.
[29] Adeva-Andany MM, Calvo-Castro I, Fernández-Fernández C, et al. Significance of l-carnitine for human health [J]. IUBMB Life, 2017, 69(8): 578-594.
[30] El-Hattab AW, Emrick LT, Chanprasert S, et al. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome [J]. Int J Biochem Cell Biol, 2014, 48: 85-91. doi: 10.1016/j.biocel.2013.12.009.

多维度评价

Viewed

Full text

Abstract

Cited

Shared

Discussed