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

[1] Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency [J].

Andresen, BS ;

Olpin, S ;

Poorthuis, BJHM ;

Scholte, HR ;

Vianey-Saban, C ;

Wanders, R ;

Ijlst, L ;

Morris, A ;

Pourfarzam, M ;

Bartlett, K ;

Baumgartner, ER ;

deKlerk, JBC ;

Schroeder, LD ;

Corydon, TJ ;

Lund, H ;

Winter, V ;

Bross, P ;

Bolund, L ;

Gregersen, N .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) :479-494

[2]

Andreu A L, 2007, Acta Myol, V26, P53

[3]

Andreu AL, 1999, ANN NEUROL, V45, P127, DOI 10.1002/1531-8249(199901)45:1<127::AID-ART20>3.0.CO

[4]

2-Y

[5] Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA [J].

Andreu, AL ;

Hanna, MG ;

Reichmann, H ;

Bruno, C ;

Penn, AS ;

Tanji, K ;

Pallotti, F ;

Iwata, S ;

Bonilla, E ;

Lach, B ;

Morgan-Hughes, J ;

DiMauro, S .

NEW ENGLAND JOURNAL OF MEDICINE, 1999, 341 (14) :1037-1044

[6] Spectrum of metabolic myopathies [J].

Angelini, Corrado .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2015, 1852 (04) :615-621

[7]

Antunes Ana Patricia, 2013, J Clin Neuromuscul Dis, V15, P69, DOI 10.1097/CND.0000000000000012

[8] Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene [J].

Bali, Deeksha S. ;

Goldstein, Jennifer L. ;

Fredrickson, Keri ;

Rehder, Catherine ;

Boney, Anne ;

Austin, Stephanie ;

Weinstein, David A. ;

Lutz, Richard ;

Boneh, Avihu ;

Kishnani, Priya S. .

MOLECULAR GENETICS AND METABOLISM, 2014, 111 (03) :309-313

[9] Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2) [J].

Barth, Peter G. ;

Ryan, Monique M. ;

Webster, Richard I. ;

Aronica, Eleonora ;

Kan, Alex ;

Ramkema, Marja ;

Jardine, Philip ;

Poll-The, Bwee Tien .

NEUROMUSCULAR DISORDERS, 2008, 18 (01) :52-58

[10] Glycogen storage disease type IX: High variability in clinical phenotype [J].

Beauchamp, Nicholas James ;

Dalton, Ann ;

Ramaswami, Uma ;

Nimikoski, Harri ;

Mention, Karine ;

Kenny, Patricio ;

Kolho, Kaija-Leena ;

Raiman, Julian ;

Walter, John ;

Treacy, Eileen ;

Tanner, Stuart ;

Sharrard, Mark .

MOLECULAR GENETICS AND METABOLISM, 2007, 92 (1-2) :88-99

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