Idiopathic rhabdomyolysis

Savage, D. C. L.; Forbes, M.; Pearce, G. W.

doi:10.1136/adc.46.249.594

Cited by 28 publications

(5 citation statements)

References 45 publications

(49 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The steps of ␤-oxidation are detailed in Figure 3. scription of idiopathic paroxysmal myoglobinuria is credited to Meyer-Betz, 102 and many cases have been reported. 9,29,45,125,128,136,153 An autosomal recessive pattern of inheritance may be evident. 29,45,128,135 Cases can be broadly classified according to whether attacks are triggered by exertion (the more common scenario) or infection, often with starvation.…”

mentioning

confidence: 96%

Rhabdomyolysis: A review

2002

View full text Add to dashboard Cite

Rhabdomyolysis, a syndrome of skeletal muscle breakdown with leakage of muscle contents, is frequently accompanied by myoglobinuria, and if sufficiently severe, acute renal failure with potentially life-threatening metabolic derangements may ensue. A diverse spectrum of inherited and acquired disorders affecting muscle membranes, membrane ion channels, and muscle energy supply causes rhabdomyolysis. Common final pathophysiological mechanisms among these causes of rhabdomyolysis include an uncontrolled rise in free intracellular calcium and activation of calcium-dependent proteases, which lead to destruction of myofibrils and lysosomal digestion of muscle fiber contents. Recent advances in molecular genetics and muscle enzyme histochemistry may enable a specific metabolic diagnosis in many patients with idiopathic recurrent rhabdomyolysis.

show abstract

mentioning

confidence: 96%

Rhabdomyolysis: A review

2002

View full text Add to dashboard Cite

show abstract

“…Some authors prefer to differentiate between exertional and non-exertional categories (Korein et al, 1959;Savage et al, 1971). A fundamental division between genetic and sporadic forms of myoglobinuria, as proposed by Rowland and Penn (1971), seems to be more useful.…”

Section: Discussionmentioning

confidence: 96%

Recurrent exertional rhabdomyolysis and stunted growth

et al. 1978

View full text Add to dashboard Cite

A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he noted bouts of pigmenturia associated with episodes of considerable malaise. The change in color of the urine was caused by myoglobin. An electromyogram was myopathic. CPK rose during 60 minutes mild exercise. Prolonged moderate exercise could not be performed. Histopathological examination of muscle biopsy revealed an increase in the number of 11C fibres (20%). Electronmicroscopy revealed the wavy outline of a number of fibres and hypertrophy of sarcoplasmic reticulum elements. No cause for the stunted growth could be detected.

show abstract

“…Hypercalcaemia is a well-recognised feature of major clinical (Savage et a/. 1971, Knochel 1981) and experimental (Meroney et a/.…”

Section: Discussionmentioning

confidence: 99%

Familial Paroxysmal Rhabdomyolysis: Management of Two Cases of the Non‐exertional Type

Ramesh

Gardner-Medwin

1992

Develop Med Child Neuro

View full text Add to dashboard Cite

SUMMARY Familial paroxysmal rhabdomyolysis with myoglobinuria is a rare and life‐threatening disease of young children, of unknown aetiology. Attacks bear no relation to exercise, are usually triggered by intercurrent infections and are often severe. The authors describe two cases and suggest plans for the prevention and management of attacks. Fasting appears to be the crucial factor precipitating attacks, but is not associated with hypoglycaemia or with a defect in lactate production, ketogenesis or fatty acid mobilisation. The fatty acid‐binding protein in a muscle biopsy from one case was normal. RŕSUMŕ Rhabdomyolyse familiale: prise en charge de deux cas du type non liŕ á l'exercice La rhabdomyolyse familiale paroxystique avec myoglobinurie est une maladie rare et menacante pour la vie, du jeune enfant, d'ŕtiologie inconnue. Les attaques ne sont pas reliŕes á l'exercice et sont souvent dŕclenchŕes par des infections intercurrentes; elles sont souvent graves. Les auteurs dŕcrivent deux cas et donnent des indications pour la prŕvention et la prise en charge des attaques. Le jeûne apparait le facteur crucial prŕcipitant les attaques mais il n'est pas associŕ à une hypoglycŕmie, à un dŕfaut de production de lactates, une acidocŕtose ou une mobilisation d'acides gras. Les protŕines liŕes aux acides gras ŕtaient normales dans une biopsie musculaire pratiquŕe sur un cas. ZUSAMMENFASSUNG Familiäre Rhabdomyolyse: Behandlung von zwei Fällen mit dem Ruhetyp Die familiäre paroxysmale Rhabdomyolyse mit Myoglobinuria ist bei Kindern eine seltene und lebensbedrohliche Erkrankung unbekannter Ätiologie. Die Anfälle sind unabhängig von körperlicher Anstrengung, werden in der Regel durch interkurrente Infekte ausgelöst und sind sehr schwer. Die Autoren beschreiben zwei Fälle und empfehlen ein Vorgehen zur Prävention und Behandlung der Anfälle. Fasten scheint der entscheidende Faktor bei der Auslösung der Anfälle zu sein, es besteht aber keine Beziehung zu einer Hypoglykämie oder zu einem Defekt in der Laktatbildung, der Ketogenese oder der Fettsäurembolisation. Das Fettsäure bindende Protein in der Muskelbiopsie des einen Patienten war normal. RESUMEN Rabdomiolisis familiarmanejo de dos casos del tipo ‘sin esfuerzo’ La rabdomiolisis paroxística familiar con mioglobinuria es una enfermedad rara, que amenaza la vida del niño y es de etiologia desconocida. Los ataques no tienen ninguna relación con el ejercicio, corrientemente son precipitados por infecciones intercurrentes y a menudo son graves. Los autores describen dos casos y sugieren planes para la prevención y el manejo de los ataques. El ayuno aparace como como el factor crucial precipitante de los ataques, pero no está asociado con hipoglycemia o con un defecto en la producción de lactato, la cetogenesis o la mobilización de ácidos grasos. La proteina ligada a ácidos grasos en una biopsia muscular en un caso era normal.

show abstract

Idiopathic rhabdomyolysis

Cited by 28 publications

References 45 publications

Rhabdomyolysis: A review

Rhabdomyolysis: A review

Recurrent exertional rhabdomyolysis and stunted growth

Familial Paroxysmal Rhabdomyolysis: Management of Two Cases of the Non‐exertional Type

Contact Info

Product

Resources

About