RYR1基因变异的劳力性横纹肌溶解1例

doi:10.3969/j.issn.1674-8115.2024.10.016

上海交通大学学报（医学版） ›› 2024, Vol. 44 ›› Issue (10): 1330-1334.doi: 10.3969/j.issn.1674-8115.2024.10.016

• 病例报告 • 上一篇

RYR1基因变异的劳力性横纹肌溶解1例

王光璞(), 王亚琨, 吴迪, 白寿军()

复旦大学附属中山医院青浦分院肾内科，上海 201700

收稿日期:2023-11-05 接受日期:2024-06-24 出版日期:2024-10-28 发布日期:2024-10-28
通讯作者: 白寿军 E-mail:757492763@qq.com;baishoujun@126.com
作者简介:王光璞（1994—），男，住院医师，硕士。电子信箱：757492763@qq.com。

A case of exertional rhabdomyolysis with RYR1 gene variation

WANG Guangpu(), WANG Yakun, WU Di, BAI Shoujun()

Department of Nephrology, Qingpu Branch of Zhongshan Hospital, Fudan University, Shanghai 201700, China

Received:2023-11-05 Accepted:2024-06-24 Online:2024-10-28 Published:2024-10-28
Contact: BAI Shoujun E-mail:757492763@qq.com;baishoujun@126.com

摘要/Abstract

摘要：

导致成人发生横纹肌溶解的原因多样，其中之一为体力消耗所致，称为劳力性横纹肌溶解（exertional rhabdomyolysis，ERM）。ERM的主要表现为肌细胞被破坏，使得细胞内的内容物释放至血液中，从而引起的肌痛、深色尿、无力、血清肌酸激酶（creatine kinase，CK）和肌红蛋白升高等一系列症状。部分患者症状反复发作，持续高血清CK（大于正常上限的50倍），或出现无法解释的严重疾病表现。在许多病例中，病因尚不清楚。近来研究发现，雷诺丁受体1（ryanodine receptor 1，RYR1）基因突变可能是运动诱导ERM的病因之一。该文报道了1例表现为ERM的患者，基因检测显示为杂合RYR1基因错义变异。经过补液、改善代谢、抗氧化等治疗后，患者的临床症状及CK水平均有所改善。

关键词: 雷诺丁受体1, 变异, 劳力性横纹肌溶解, 肌酸激酶

Abstract:

The etiology of rhabdomyolysis in adults is multifaceted, with one cause being physical exertion, termed exertional rhabdomyolysis (ERM). Characterized primarily by the destruction of muscle cells, ERM results in the release of intracellular contents into the bloodstream, leading to a spectrum of symptoms, including myalgia, dark urine, weakness, and marked elevations in serum creatine kinase (CK) and myoglobin levels. Some patients experience recurrent symptoms, persistently high serum CK levels (exceeding 50 times the normal upper limit), or unexplained severe manifestations. Despite this, the underlying pathogenesis remains elusive in numerous cases. Recent studies have implicated mutations in the RYR1 gene as a potential cause of exercise-induced ERM. This report describes a patient presenting with ERM and a heterozygous RYR1 gene missense mutation. Following treatment with fluid resuscitation, metabolic optimization, and antioxidant therapy, the patient exhibited clinical and biochemical improvement.

Key words: ryanodine receptor 1 (RYR1), mutation, exertional rhabdomyolysis, creatine kinase

中图分类号:

王光璞, 王亚琨, 吴迪, 白寿军. RYR1基因变异的劳力性横纹肌溶解1例[J]. 上海交通大学学报（医学版）, 2024, 44(10): 1330-1334.

WANG Guangpu, WANG Yakun, WU Di, BAI Shoujun. A case of exertional rhabdomyolysis with RYR1 gene variation[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2024, 44(10): 1330-1334.

图/表 2

参考文献 18

1	DLAMINI N, VOERMANS N C, LILLIS S, et al. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis[J]. Neuromuscul Disord, 2013, 23(7): 540-548.
2	李国刚, 杨林, 朱平. 横纹肌溶解症发病机制研究进展[J]. 中华灾害救援医学, 2019, 7(10): 596-600.
	LI G G, YANG L, ZHU P. Research progress on pathogenesis of rhabdomyolysis[J]. China Disaster Relief Medicine, 2019, 7(10): 596-600.
3	CHATZIZISIS Y S, MISIRLI G, HATZITOLIOS A I, et al. The syndrome of rhabdomyolysis: complications and treatment[J]. Eur J Intern Med, 2008, 19(8): 568-574.
4	BÄCKER H C, RICHARDS J T, KIENZLE A, et al. Exertional rhabdomyolysis in athletes: systematic review and current perspectives[J]. Clin J Sport Med, 2023, 33(2): 187-194.
5	SCALCO R S, SNOECK M, QUINLIVAN R, et al. Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?[J]. BMJ Open Sport Exerc Med, 2016, 2(1): e000151.
6	CARNEIRO A, VIANA-GOMES D, MACEDO-DA-SILVA J, et al. Risk factors and future directions for preventing and diagnosing exertional rhabdomyolysis[J]. Neuromuscul Disord, 2021, 31(7): 583-595.
7	VIVANTE A, ITYEL H, PODE-SHAKKED B, et al. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases[J]. Pediatr Nephrol, 2017, 32(12): 2273-2282.
8	JUNGBLUTH H, SEWRY C A, MUNTONI F. Core myopathies[J]. Semin Pediatr Neurol, 2011, 18(4): 239-249.
9	VOERMANS N C, SNOECK M, JUNGBLUTH H. RYR1-related rhabdomyolysis: a common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction[J]. Rev Neurol, 2016, 172(10): 546-558.
10	CHELU M G, GOONASEKERA S A, DURHAM W J, et al. Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse[J]. FASEB J, 2006, 20(2): 329-330.
11	BOMPAIRE F, ROUX-BUISSON N, MONNIER N, et al. G.P.49 RYR1 mutations in adults with acute rhabdomyolysis episodes[J]. Neuromuscul Disord, 2014, 24(9/10): 809.
12	GORDON MILLICHAP J. RYR1 mutations, exertional myalgia and rhabdomyolysis[J]. Pediatr Neurol Briefs, 2013, 27(7): 50.
13	KNUIMAN G J, KÜSTERS B, ESHUIS L, et al. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations[J]. J Neurol, 2019, 266(4): 876-887.
14	KODADEK L, CARMICHAEL II S P, SESHADRI A, et al. Rhabdomyolysis: an American association for the surgery of trauma critical care committee clinical consensus document[J]. Trauma Surg Acute Care Open, 2022, 7(1): e000836.
15	ESPOSITO P, ESTIENNE L, SERPIERI N, et al. Rhabdomyolysis-associated acute kidney injury[J]. Am J Kidney Dis, 2018, 71(6): A12-A14.
16	BUTALA B N, KANG A, GURON J, et al. Long term oral Dantrolene Improved Muscular Symptoms in a Malignant Hyperthermia Susceptible Individual[J]. J Neuromuscul Dis, 2016, 3(1): 115-119.
17	SCALCO R S, VOERMANS N C, PIERCY R J, et al. Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis[J]. Eur J Neurol, 2016, 23(8): e56-e57.
18	KUSHNIR A, TODD J J, WITHERSPOON J W, et al. Intracellular calcium leak as a therapeutic target for RYR1-related myopathies[J]. Acta Neuropathol, 2020, 139(6): 1089-1104.

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RYR1基因变异的劳力性横纹肌溶解1例

A case of exertional rhabdomyolysis with RYR1 gene variation

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