Rhabdomyolysis: a genetic perspective

被引：0

作者：

Renata Siciliani Scalco

Alice R Gardiner

Robert DS Pitceathly

Edmar Zanoteli

Jefferson Becker

Janice L Holton

Henry Houlden

Heinz Jungbluth

Ros Quinlivan

机构：

[1] University College London (UCL) Institute of Neurology and National Hospital for Neurology and Neurosurgery,MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience

[2] Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS),Department of Neurology, HSL

[3] CAPES Foundation,Department of Neurology, School of Medicine

[4] Ministry of Education of Brazil,undefined

[5] Department of Basic and Clinical Neuroscience,undefined

[6] Institute of Psychiatry,undefined

[7] Psychology and Neuroscience,undefined

[8] King’s College London (KCL),undefined

[9] Universidade de São Paulo (FMUSP),undefined

[10] Department of Paediatric Neurology,undefined

[11] Evelina Children’s Hospital,undefined

[12] Guy’s & St Thomas NHS Foundation Trust,undefined

[13] Randall Division for Cell and Molecular Biophysics,undefined

[14] Muscle Signalling Section,undefined

[15] King’s College London,undefined

[16] Dubowitz Neuromuscular Centre,undefined

[17] Great Ormond Street Hospital,undefined

来源：

Orphanet Journal of Rare Diseases | / 10卷

关键词：

Rhabdomyolysis; Myoglobinuria; Neuromuscular disorders; Diagnosis; Genetic; Polymorphism; Increased CK; Triggers; Phenotype; Gene; Muscle metabolism; Muscle Biopsy; Pathology;

D O I：

暂无

中图分类号：

学科分类号：

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.

引用

共 50 条

[21] Genetic mapping of recurrent exertional rhabdomyolysis in a population of North American Thoroughbreds
Fritz, K. L.
McCue, M. E.
Valberg, S. J.
Rendahl, A. K.
Mickelson, J. R.
ANIMAL GENETICS, 2012, 43 (06) : 730 - 738
[22] A genetic perspective on myopia
F. K. Jacobi
E. Zrenner
M. Broghammer
C. M. Pusch
Cellular and Molecular Life Sciences CMLS, 2005, 62 : 800 - 808
[23] Macrosomia: A genetic perspective
Dar, P
Gross, SJ
CLINICAL OBSTETRICS AND GYNECOLOGY, 2000, 43 (02): : 298 - 308
[24] A genetic perspective on myopia
Jacobi, FK
Zrenner, E
Broghammer, M
Pusch, CM
CELLULAR AND MOLECULAR LIFE SCIENCES, 2005, 62 (7-8) : 800 - 808
[25] GENETIC PERSPECTIVE ON STUTTERING
KIDD, KK
JOURNAL OF FLUENCY DISORDERS, 1977, 2 (04) : 259 - 269
[26] Perspective on Rhabdomyolysis-Induced Acute Kidney Injury and New Treatment Options
Ulusoy, Sukru
Ozkan, Gulsum
Alkanat, Mehmet
Mungan, Sevdegul
Yulug, Esin
Orem, Asim
AMERICAN JOURNAL OF NEPHROLOGY, 2013, 38 (05) : 368 - 378
[27] Extensive genetic investigation in recurrent rhabdomyolysis and vacuolar myopathy: an undiagnosed case report
Scalco, R. S.
Gardiner, A.
Godfrey, R.
Olpin, S. E.
Kirk, R.
Majumdar, A.
Murphy, E.
Houlden, H.
Holton, J. L.
Quinlivan, R.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2015, 41 : 45 - 45
[28] Genetic variability in rosuvastatin metabolism explains rhabdomyolysis and consequent acute renal failure
Mlinsek, Gregor
Blagus, Tanja
Vrecko, Marija Malgaj
Rigler, Andreja Ales
Dolzan, Vita
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 : I2823 - I2824
[29] Genetic variability in rosuvastatin metabolism explains rhabdomyolysis and consequent acute renal failure
Mlinsek, Gregor
Blagus, Tanja
Vrecko, Marija Malgaj
Rigler, Andreja Ales
Dolzan, Vita
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39
[30] Utilising next-generation sequencing to determine the genetic basis of recurrent rhabdomyolysis
Scalco, R. S.
Pitceathly, R. D. S.
Gardiner, A.
Woodward, C.
Polke, J. M.
Sweeney, M. G.
Olpin, S. E.
Kirk, R.
Murphy, E.
Hilton-Jones, D.
Jungbluth, H.
Houlden, H.
Hanna, M. G.
Quinlivan, R.
NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 801 - 801

← 1 2 3 4 5 →