McArdle disease: a “pediatric” disorder presenting in an adult with acute kidney injury

Zhao, Xixi; Li, Angela; Soni, Madhu; Muriello, Michael; Jones, Carol L.; Whittier, William L.

doi:10.1007/s13730-017-0265-2

Cited by 6 publications

(4 citation statements)

References 26 publications

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“…7 In two cases, men presented with muscular weakness, myalgia, and dark urine after almost drowning. 8,9 Laboratory data showed severe rhabdomyolysis and necessitated hemodialysis. In our case, the patient was previously healthy.…”

Section: Discussionmentioning

confidence: 99%

Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease

et al. 2021

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McArdle disease, also known as glycogen storage disease type V, is an autosomal recessive disease due to the absence of myophosphorylase activity, leading to the complete disruption of glycogen breakdown in muscles. We present a rare case of a Caucasian male, aged 26 years, who developed rhabdomyolysis-induced acute renal failure and uremic encephalopathy. Neurological examination and histopathological studies supported the diagnosis of McArdle disease. The severity of his symptoms necessitated urgent hemodialysis, upon which the patient reported improvement in status. Acute renal failure in McArdle disease usually resolves with supportive treatment and maintenance of regular physical activity. Nevertheless, in more severe cases, intensive care with urgent hemodialysis may be needed. A multidisciplinary approach is necessary for the adequate management of similar cases.

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Section: Discussionmentioning

confidence: 99%

Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease

et al. 2021

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“…Muscle glycogen phosphorylase (Pygm) is involved in glycogen metabolism [54]. The homozygous mutation in the Pygm gene leads to glycogen metabolism disorder in patients with acute kidney injury [55].…”

Section: Discussionmentioning

confidence: 99%

Identification of differentially expressed proteins in the injured lung from zinc chloride smoke inhalation based on proteomics analysis

Xie

Zhao²,

Xie³

et al. 2019

Respir Res

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Background Lung injury due to zinc chloride smoke inhalation is very common in military personnel and leads to a high incidence of pulmonary complications and mortality. The aim of this study was to uncover the underlying mechanisms of lung injury due to zinc chloride smoke inhalation using a rat model. Methods: Histopathology analysis of rat lungs after zinc chloride smoke inhalation was performed by using haematoxylin and eosin (H&E) and Mallory staining. A lung injury rat model of zinc chloride smoke inhalation (smoke inhalation for 1, 2, 7 and 14 days) was developed. First, isobaric tags for relative and absolute quantization (iTRAQ) and weighted gene co-expression network analysis (WGCNA) were used to identify important differentially expressed proteins. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were used to study the biological functions of differentially expressed proteins. Then, analysis of lung injury repair-related differentially expressed proteins in the early (day 1 and day 2) and middle-late stages (day 7 and day 14) of lung injury after smoke inhalation was performed, followed by the protein-protein interaction (PPI) analysis of these differentially expressed proteins. Finally, the injury repair-related proteins PARK7 and FABP5 were validated by immunohistochemistry and western blot analysis. Results Morphological changes were observed in the lung tissues after zinc chloride smoke inhalation. A total of 27 common differentially expressed proteins were obtained on days 1, 2, 7 and 14 after smoke inhalation. WGCNA showed that the turquoise module (which involved 909 proteins) was most associated with smoke inhalation time. Myl3, Ckm, Adrm1 and Igfbp7 were identified in the early stages of lung injury repair. Gapdh, Acly, Tnni2, Acta1, Actn3, Pygm, Eno3 and Tpi1 (hub proteins in the PPI network) were identified in the middle-late stages of lung injury repair. Eno3 and Tpi1 were both involved in the glycolysis/gluconeogenesis signalling pathway. The expression of PARK7 and FABP5 was validated and was consistent with the proteomics analysis. Conclusion The identified hub proteins and their related signalling pathways may play crucial roles in lung injury repair due to zinc chloride smoke inhalation.

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“…This usually manifests in adolescence or early adulthood with muscle cramps and severe exercise intolerance. Diagnosis is suspected with laboratory findings of rhabdomyolysis and myoglobinuria, although genetic testing or a forearm muscle exercise test might also be needed [4][5][6]. This condition's exacerbation may be triggered by exercise, infection, or trauma [7].…”

Section: Introductionmentioning

confidence: 99%

Severe Liver Injury Secondary to COVID-19-Induced Rhabdomyolysis in McArdle Disease

Neme¹,

Hazim²,

Duarte³

et al. 2023

Cureus

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Severe liver injury is an uncommon condition caused by non-traumatic rhabdomyolysis. This rare correlation is more commonly seen in the aspartate aminotransferase (AST) than in the alanine transaminase (ALT) level elevation. We report a case of a 27-year-old male with a history of McArdle disease who presented with generalized muscle aches associated with dark urine. His workup showed SARS-CoV-2 positive, severe rhabdomyolysis (creatinine kinase [CK] > 40000 U/L) and acute kidney injury (AKI) followed by severe liver injury (AST/ALT: 2122/383 U/L). He was started on aggressive intravenous hydration. After multiple boluses, he became overloaded, fluids were re-adjusted and continued, his renal function, CK, and liver enzymes improved, and the patient was discharged; during his visit at the post-discharge, the patient was asymptomatic and no clinical or laboratory abnormalities were found. The glycogen storage diseases are challenging, but prompt and accurate assessment is determinant in recognizing potential life-threatening complications of SARS-CoV-2. The failure to identify complicated rhabdomyolysis could lead to the patient's rapid deterioration, ending in multiorgan failure.

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McArdle disease: a “pediatric” disorder presenting in an adult with acute kidney injury

Cited by 6 publications

References 26 publications

Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease

Clinical Presentation and Management of Severe Acute Renal Failure in McArdle Disease

Identification of differentially expressed proteins in the injured lung from zinc chloride smoke inhalation based on proteomics analysis

Severe Liver Injury Secondary to COVID-19-Induced Rhabdomyolysis in McArdle Disease

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