Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients

Tuchmann-Durand, Caroline; Roda, Célina; Renard, Perrine; Mortamet, Guillaume; Bérat, Claire-Marine; Altenburger, Lucile; Larauz, Marie Hug de; Thevenet, Eloise; Cottart, Charles‐Henry; Moulin, F.; Bouchereau, Juliette; Brassier, Anaïs; Arnoux, Jean‐Baptiste; Schiff, Manuel; Bednarek, Nathalie; Lamireau, Delphine; Garros, Alexa; Mention, Karine; Cano, Aline; Finger, Lionel; Pelosi, Michele; Brochet, Cécile Sergent; Caccavelli, Laure; Raphalen, Jean-Herlé; Renolleau, Sylvain; Oualha, Mehdi; Lonlay, Pascale de

doi:10.1002/jimd.12592

Cited by 5 publications

(2 citation statements)

References 39 publications

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“… 13 Alternatively, corticosteroids have been shown to be effective against rhabdomyolysis caused by various aetiologies ( Table 2 ). 6 , 7 , 14 – 20 Here, we report the first case of rhabdomyolysis in a patient undergoing dialysis treatment who was receiving telbivudine for hepatitis B virus infection.…”

Section: Introductionmentioning

confidence: 93%

Telbivudine-induced rhabdomyolysis in a patient undergoing haemodialysis: A case report and review of literature

Wu,

Xu,

Huang

et al. 2023

J Int Med Res

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Herein, we describe a case of acute rhabdomyolysis in a man in his early 50s undergoing haemodialysis and receiving the antiviral drug, telbivudine, for chronic hepatitis B virus (HBV) infection. Following diagnosis by electromyography (EMG), magnetic resonance image (MRI) scans and laboratory data (i.e., elevated serum creatinine kinase (CK) and myoglobin) telbivudine was discontinued and the patient was treated with methylprednisolone. While his CK and myoglobin levels decreased rapidly, his muscle weakness and pain improved slowly. Learning points include: patients undergoing haemodialysis and concomitantly receiving antiviral treatment for HBV, should have their serum levels of CK and myoglobin monitored regularly; treatment with corticosteroids maybe required; relief from rhabdomyolysis-induced muscle weakness and pain may be slow due to nerve fibre damage.

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Section: Introductionmentioning

confidence: 93%

Telbivudine-induced rhabdomyolysis in a patient undergoing haemodialysis: A case report and review of literature

Wu,

Xu,

Huang

et al. 2023

J Int Med Res

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“…One variant is particularly frequent in Caucasian patients. Symptomatic treatment of rhabdomyolysis is key, and recent data suggest that early administration of steroids at the initiation of the crisis might also be beneficial [81]. Prevention of rhabdomyolysis is also possible by educating caregivers to detect at-risk scenarios and by admitting the child to ICU for monitoring and intervention.…”

Section: Lipin-1 Deficiencymentioning

confidence: 99%

Metabolic Myopathies in the Era of Next-Generation Sequencing

Urtizberea

Severa

Malfatti

2023

Genes

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Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases are now better-known. In general the pathophysiology of metabolic myopathies needs to be better understood. Thanks to the advent of next-generation sequencing (NGS), genetic testing has replaced more invasive investigations and sophisticated enzymatic assays to reach a final diagnosis in many cases. The current diagnostic algorithms for metabolic myopathies have integrated this paradigm shift and restrict invasive investigations for complicated cases. Moreover, NGS contributes to the discovery of novel genes and proteins, providing new insights into muscle metabolism and pathophysiology. More importantly, a growing number of these conditions are amenable to therapeutic approaches such as diets of different kinds, exercise training protocols, and enzyme replacement therapy or gene therapy. Prevention and management—notably of rhabdomyolysis—are key to avoiding serious and potentially life-threatening complications and improving patients’ quality of life. Although not devoid of limitations, the newborn screening programs that are currently mushrooming across the globe show that early intervention in metabolic myopathies is a key factor for better therapeutic efficacy and long-term prognosis. As a whole NGS has largely increased the diagnostic yield of metabolic myopathies, but more invasive but classical investigations are still critical when the genetic diagnosis is unclear or when it comes to optimizing the follow-up and care of these muscular disorders.

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Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

de Calbiac,

Imbard,

de Lonlay

2024

J of Inher Metab Disea

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Acute rhabdomyolysis (RM) constitutes a life‐threatening emergency resulting from the (acute) breakdown of skeletal myofibers, characterized by a plasma creatine kinase (CK) level exceeding 1000 IU/L in response to a precipitating factor. Genetic predisposition, particularly inherited metabolic diseases, often underlie RM, contributing to recurrent episodes. Both sporadic and congenital forms of RM share common triggers. Considering the skeletal muscle's urgent need to rapidly adjust to environmental cues, sustaining sufficient energy levels and functional autophagy and mitophagy processes are vital for its preservation and response to stressors. Crucially, the composition of membrane lipids, along with lipid and calcium transport, and the availability of adenosine triphosphate (ATP), influence membrane biophysical properties, membrane curvature in skeletal muscle, calcium channel signaling regulation, and determine the characteristics of autophagic organelles. Consequently, a genetic defect involving ATP depletion, aberrant calcium release, abnormal lipid metabolism and/or lipid or calcium transport, and/or impaired anterograde trafficking may disrupt autophagy resulting in RM. The complex composition of lipid membranes also alters Toll‐like receptor signaling and viral replication. In response, infections, recognized triggers of RM, stimulate increased levels of inflammatory cytokines, affecting skeletal muscle integrity, energy metabolism, and cellular trafficking, while elevated temperatures can reduce the activity of thermolabile enzymes. Overall, several mechanisms can account for RMs and may be associated in the same disease‐causing RM.

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Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients

Cited by 5 publications

References 39 publications

Telbivudine-induced rhabdomyolysis in a patient undergoing haemodialysis: A case report and review of literature

Telbivudine-induced rhabdomyolysis in a patient undergoing haemodialysis: A case report and review of literature

Metabolic Myopathies in the Era of Next-Generation Sequencing

Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

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