Rhabdomyolysis: a genetic perspective

被引：104

作者：

Scalco, Renata Siciliani ^{[1
,2
,3
,4
]}

Gardiner, Alice R. ^{[1
,2
]}

Pitceathly, Robert D. S. ^{[1
,2
,5
]}

Zanoteli, Edmar ^{[6
]}

Becker, Jefferson ^{[3
]}

Holton, Janice L. ^{[1
,2
]}

Houlden, Henry ^{[1
,2
]}

Jungbluth, Heinz ^{[5
,7
,8
]}

Quinlivan, Ros ^{[1
,2
,9
]}

机构：

[1] UCL, Inst Neurol, MRC Ctr Neuromuscular Dis, London, England

[2] Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England

[3] Pontificia Univ Catolica Rio Grande Sul PUCRS, HSL, Dept Neurol, Porto Alegre, RS, Brazil

[4] Minist Educ Brazil, CAPES Fdn, Brasilia, DF, Brazil

[5] Kings Coll London, Inst Psychiat Psychol & Neurosci, Dept Basic & Clin Neurosci, London WC2R 2LS, England

[6] Univ Sao Paulo FMUSP, Sch Med, Dept Neurol, Sao Paulo, SP, Brazil

[7] Guys & St Thomas NHS Fdn Trust, Evelina Childrens Hosp, Dept Paediat Neurol, London, England

[8] Kings Coll London, Muscle Signalling Sect, Randall Div Cell & Mol Biophys, London WC2R 2LS, England

[9] Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, England

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2015年 / 10卷

关键词：

Rhabdomyolysis; Myoglobinuria; Neuromuscular disorders; Diagnosis; Genetic; Polymorphism; Increased CK; Triggers; Phenotype; Gene; Muscle metabolism; Muscle Biopsy; Pathology; PHOSPHOGLYCERATE KINASE-DEFICIENCY; INHERITED METABOLIC MYOPATHY; BETA-ENOLASE DEFICIENCY; ACUTE-RENAL-FAILURE; 2ND WIND PHENOMENON; CYTOCHROME-B GENE; EXERCISE INTOLERANCE; PHOSPHORYLASE-KINASE; RECURRENT RHABDOMYOLYSIS; COMMON-CAUSE;

D O I：

10.1186/s13023-015-0264-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure. Apart from trauma, a wide range of causes have been reported including drug abuse and infections. Underlying genetic disorders are also a cause of RM and can often pose a diagnostic challenge, considering their marked heterogeneity and comparative rarity. In this paper we review the range of rare genetic defects known to be associated with RM. Each gene has been reviewed for the following: clinical phenotype, typical triggers for RM and recommended diagnostic approach. The purpose of this review is to highlight the most important features associated with specific genetic defects in order to aid the diagnosis of patients presenting with hereditary causes of recurrent RM.

引用

页数：15

共 114 条

[81] Glutaric Aciduria Type II Presenting as Myopathy and Rhabdomyolysis in a Teenager [J].

Prasad, Manish ;

Hussain, Shanawaz .

JOURNAL OF CHILD NEUROLOGY, 2015, 30 (01) :96-99

[82] Muscle phosphorylase kinase deficiency A neutral metabolic variant or a disease? [J].

Preisler, N. ;

Orngreen, M. C. ;

Echaniz-Laguna, A. ;

Laforet, P. ;

Lonsdorfer-Wolf, E. ;

Doutreleau, S. ;

Geny, B. ;

Akman, H. O. ;

DiMauro, S. ;

Vissing, J. .

NEUROLOGY, 2012, 78 (04) :265-268

[83] McArdle disease: a clinical review [J].

Quinlivan, R. ;

Buckley, J. ;

James, M. ;

Twist, A. ;

Ball, S. ;

Duno, M. ;

Vissing, J. ;

Bruno, C. ;

Cassandrini, D. ;

Roberts, M. ;

Winer, J. ;

Rose, M. ;

Sewry, C. .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2010, 81 (11) :1182-1188

[84] Myopathic causes of exercise intolerance with rhabdomyolysis [J].

Quinlivan, Ros ;

Jungbluth, Heinz .

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2012, 54 (10) :886-891

[85] Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions [J].

Ronchi, Dario ;

Garone, Caterina ;

Bordoni, Andreina ;

Rios, Purificacion Gutierrez ;

Calvo, Sarah E. ;

Ripolone, Michela ;

Ranieri, Michela ;

Rizzuti, Mafalda ;

Villa, Luisa ;

Magri, Francesca ;

Corti, Stefania ;

Bresolin, Nereo ;

Mootha, Vamsi K. ;

Moggio, Maurizio ;

DiMauro, Salvatore ;

Comi, Giacomo P. ;

Sciacco, Monica .

BRAIN, 2012, 135 :3404-3415

[86]

ROSA R, 1982, BLOOD, V60, P84

[87] Malignant hyperthermia [J].

Rosenberg, Henry ;

Davis, Mark ;

James, Danielle ;

Pollock, Neil ;

Stowell, Kathryn .

ORPHANET JOURNAL OF RARE DISEASES, 2007, 2 (1)

[88] NOVEL ETFDH MUTATION AND IMAGING FINDINGS IN AN ADULT WITH GLUTARIC ACIDURIA TYPE II [J].

Rosenbohm, Angela ;

Suessmuth, Sigurd D. ;

Kassubek, Jan ;

Mueller, Hans-Peter ;

Pontes, Christina ;

Abicht, Angela ;

Bulst, Stefanie ;

Ludolph, Albert C. ;

Pinkhardt, Elmar .

MUSCLE & NERVE, 2014, 49 (03) :446-450

[89] Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama [J].

Salameh, Johnny ;

Goyal, Namita ;

Choudry, Rabia ;

Camelo-Piragua, Sandra ;

Chong, Peter Siao Tick .

MUSCLE & NERVE, 2013, 47 (01) :138-140

[90] PROPOFOL-RELATED INFUSION SYNDROME HERALDING A MITOCHONDRIAL DISEASE: CASE REPORT [J].

Savard, Martin ;

Dupre, Nicolas ;

Turgeon, Alexis F. ;

Desbiens, Richard ;

Langevin, Stephan ;

Brunet, Denis .

NEUROLOGY, 2013, 81 (08) :770-771

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