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JPMA. the Journal of the Pakistan... Dec 2023McArdle's disease (Glycogen storage disease type V) is a rare inherited autosomal recessive disease involving defect in enzyme, glycogen phosphorylase (PYGM) which...
McArdle's disease (Glycogen storage disease type V) is a rare inherited autosomal recessive disease involving defect in enzyme, glycogen phosphorylase (PYGM) which results in accumulation of glycogen mainly affecting skeletal muscles. It commonly presents in childhood and rarely in adults with symptoms like exercise intolerance, muscle weakness, cramps and fatigue. Herein, we report an unusual case of a 22 years old male in Pakistan with probable McArdle's Disease presenting with repeated episodes of generalized cramping muscle pain, exercise intolerance and haematuria. The diagnostic approach to identifying this disease as well as the differentials of other rare types of skeletal muscle disorders that should be kept in mind while dealing with a similar clinical picture, irrespective of the age of presentation, have been discussed.
Topics: Humans; Male; Young Adult; Adult; Glycogen Storage Disease Type V; Muscle, Skeletal; Muscle Weakness; Fatigue; Muscle Cramp
PubMed: 38083936
DOI: 10.47391/JPMA.8401 -
Frontiers in Bioscience (Scholar... Jun 2024Several inherited metabolic fatty acid disorders present with myopathies. Skeletal muscle accounts for 40% of the body and is important for metabolism, exercise, and... (Review)
Review
Several inherited metabolic fatty acid disorders present with myopathies. Skeletal muscle accounts for 40% of the body and is important for metabolism, exercise, and movement. Muscle energy failure is manifested by metabolic crises with muscle weakness, sometimes associated with muscle fatigue and failure resulting in acute necrosis or rhabdomyolysis/myoglobinuria episodes. Lack of energy leads to muscle necrosis. Other presentations are weakness and myalgias with lipid storage myopathies in the biopsy. The biomarkers of such disorders are acyl-carnitine with various profiles and need to be carefully evaluated to plan supplementary therapy and specific diets. If red flags are not distinctly followed and diagnosed in time they might lead to a metabolic or cardiac failure.
Topics: Humans; Muscular Diseases; Carnitine; Lipid Metabolism, Inborn Errors; Muscle, Skeletal; Muscular Dystrophies
PubMed: 38939976
DOI: 10.31083/j.fbs1602012 -
Biotechnic & Histochemistry : Official... Apr 2024Myoglobinuric acute renal failure (MARF) is a structural and functional disorder that occurs in the kidney following the release of muscle cell contents into the...
Myoglobinuric acute renal failure (MARF) is a structural and functional disorder that occurs in the kidney following the release of muscle cell contents into the circulation. In this present study, possible protective and curative effects of extract against kidney and liver damage in experimentally induced MARF in a rat model were investigated. 3-4 Month-old, 200-250 g Sprague Dawley rats were divided into 8 equal groups with 7 rats per group. Group I was a no-intervention Control group. All groups except for the Group I were dehydrated for 16 hours. Following this dehydration, 50% v/v aqueous glycerol solution was injected into both hind leg muscles of the animals, at a dose of 8 ml/kg. The rats were given physiological saline (SF) once orally before the model was administered (Group II) and after the model was administered (Group V). Similarly, two different doses of root extract (40 mg/kg and 80 mg/kg) were dissolved in 2 ml of SF and administered orally before (Groups III and IV) and after (Group VI, VII) the model was created. Following the experimental period, kidney and liver tissues were removed from all groups, and fixed in 10% neutral formaldehyde solution for light microscopic examinations. Intracellular vacuolization, enlargement in the Bowman's space, widespread atrophy in the tubular structures, luminal enlargement, and desquamation were detected in the kidney tissue sections of all the experimental model groups. In the liver tissue sections, was detected hepatocyte degeneration, intracellular vacuolization, irregularity in cell membrane borders, and apoptotic bodies. These histopathological consequences of MARF were evaluated for all groups, and whereas a curative effect of could be seen, its protective effect was higher than its curative effect.
Topics: Animals; Ferula; Plant Extracts; Rats, Sprague-Dawley; Acute Kidney Injury; Liver; Kidney; Rats; Myoglobinuria; Male
PubMed: 38482807
DOI: 10.1080/10520295.2024.2323973 -
Military Medicine Jan 2024Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise (ALPE) is a rare cause of exertional acute kidney injury. The proposed...
Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise (ALPE) is a rare cause of exertional acute kidney injury. The proposed mechanism of injury in ALPE is renovascular spasm, in the setting of oxidative stress and muscular damage, which creates a characteristic wedge-shaped infarction pattern on delayed imaging. Patients present with nausea, vomiting, loin or abdominal pain, and fatigue within 1-2 days of anaerobic exercise, associated with an acute rise in serum creatinine, which generally plateaus within 3 days. This process is likely exacerbated by dehydration, analgesic usage, and lower baseline fitness levels. This disease process is distinct from rhabdomyolysis, in that creatine kinase levels are not significantly elevated, myoglobinuria is not seen, and aggressive fluid resuscitation is not beneficial. We present three cases of ALPE following participation in the Marine Combat Fitness Test (CFT), an anaerobic evolution. Medical workup demonstrated no additional etiology for acute renal failure. The average peak creatinine in these patients was 2.9 mg/dL, and all demonstrated return to normal renal function, without hemodialysis. One patient experienced recurrent ALPE, after short-interval CFT participation. Military medical providers should be aware of this diagnosis when evaluating service members with acute renal injury after exercise. The clinical course is benign, and affected service members are at increased risk of recurrence, with subsequent intense exercise. Service members should engage in a graduated exercise program, before intense exercise activities, and should be monitored closely for recurrent renal injury.
Topics: Humans; Anaerobiosis; Military Personnel; Acute Kidney Injury; Low Back Pain; Rhabdomyolysis; Ischemia
PubMed: 37534888
DOI: 10.1093/milmed/usad258 -
Journal of Orthopaedic Case Reports Jan 2024The association between rhabdomyolysis secondary to traumatic crush injuries and the resultant acute kidney injury has been well described . The pathway of opioid...
INTRODUCTION
The association between rhabdomyolysis secondary to traumatic crush injuries and the resultant acute kidney injury has been well described . The pathway of opioid overdose and acute kidney injury (AKI) has been documented but not fully elucidated. This process is believed to be multifactorial in its pathophysiology, but it remains obscure. Acidosis, systemic hypoxia, hypothermia, muscle compression, immunologic, or direct toxic effects have been identified as contributing factors to opioid-induced AKI. Musculoskeletal crush injuries account for one of the most common causes of rhabdomyolysis leading to AKI. However, the vast majority of crush injuries documented involve large regions of the body and most commonly involve the lower extremity. This is hypothesized to be due to the need for a considerable amount of muscle necrosis and sufficient myoglobinuria to cause AKI. There is a paucity of literature describing isolated upper extremity crush injuries severe enough to cause AKI. The case described herein outlines a patient who developed isolated right upper extremity compartment syndrome and resultant rhabdomyolysis leading to AKI in the setting of an opioid overdose.
CASE REPORT
Rhabdomyolysis may be caused by a variety of metabolic events. The pathophysiology of rhabdomyolysis secondary to acute crush injuries with resultant AKI is well documented. However, the literature describing cases of acute kidney injury caused by upper extremity compartment syndrome-induced rhabdomyolysis is limited. We present the case of a 33-year-old male who developed right upper extremity compartment syndrome after being incapacitated following an opioid overdose. He subsequently underwent emergent fasciotomies and was found to have an AKI secondary to rhabdomyolysis in the acute post-operative period.
CONCLUSION
This case describes a patient who was found to have isolated right upper extremity compartment syndrome and subsequent rhabdomyolysis, which resulted in AKI following an opioid overdose. This case highlights that an isolated incidence of upper extremity rhabdomyolysis is sufficient to cause acute kidney injury. The literature describing this pathology in isolated upper extremity injuries is limited as this phenomenon is typically encountered in the setting of lower extremity compartment syndrome.The pathophysiology and mechanism of this pathology are of particular importance to the fields of orthopedic surgery, nephrology, and internal medicine. This case highlights the need for early and adequate fluid resuscitation in patients with isolated upper extremity injuries to minimize the risk of subsequent AKI.
PubMed: 38292112
DOI: 10.13107/jocr.2024.v14.i01.4174 -
CEN Case Reports Apr 2024Metabolic myopathies are among the treatable causes of rhabdomyolysis and myoglobinuria. Carnitine palmitoyl transferase 2 (CPT II) deficiency is one of the most common...
Metabolic myopathies are among the treatable causes of rhabdomyolysis and myoglobinuria. Carnitine palmitoyl transferase 2 (CPT II) deficiency is one of the most common causes of recurrent myoglobinuria in adults. It is an inherited disorder of fatty acid oxidation pathway, commonly associated with elevated acylcarnitine levels. In this case report, we present a 49-year-old male patient who developed acute kidney injury after rhabdomyolysis and was thus diagnosed with CPT2 deficiency after his first episode of rhabdomyolysis. Inborn errors of metabolism should be kept in mind in patients with rhabdomyolysis. Acylcarnitine profile may be normal in CPT II deficiency, even during an acute attack, and molecular genetic diagnostics should be applied if there is high index of clinical suspicion.
Topics: Humans; Male; Middle Aged; Acute Kidney Injury; Carnitine; Carnitine O-Palmitoyltransferase; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Mitochondrial Diseases; Muscular Diseases; Myoglobinuria; Rhabdomyolysis
PubMed: 37341884
DOI: 10.1007/s13730-023-00804-8 -
Cureus May 2024The novel SARS-CoV-2 introduced several new inflammatory conditions including SARS-CoV-2-associated rhabdomyolysis and viral myositis. We present a 22-year-old man who...
The novel SARS-CoV-2 introduced several new inflammatory conditions including SARS-CoV-2-associated rhabdomyolysis and viral myositis. We present a 22-year-old man who noted a week of cough followed by myalgias, dark-colored urine, and decreased oral intake. He was found to have acute nontraumatic rhabdomyolysis after an acutely positive SARS-CoV-2 test. Initial creatine kinase (CK) level was above the reference range as were liver enzymes reflective of muscle breakdown. Treatment involved fluid resuscitation and pain control, with close monitoring of kidney, liver, and skeletal markers over five days of hospitalization till there was clinical and symptomatic improvement.
PubMed: 38933630
DOI: 10.7759/cureus.61172