The following is an excerpt....
BASICS
Description
- Breakdown (necrosis) of skeletal muscle cells and release of the intracellular contents into the circulation
- Rhabdomyolysis typically manifests with muscle aches, pains and weakness, and reddish brown (tea-colored) urine, but up to 50% of patients are asymptomatic.
Epidemiology
Incidence
26,000 hospitalized cases annually
Risk Factors
See Etiology.
Genetics
- Hereditary causes of rhabdomyolysis are infrequent but should be suspected in the following groups presenting with rhabdomyolysis: Children, patients with recurrent attacks, or patients with attacks after minimal exertion, mild illness, or starvation.
- Main inherited disorders include:
- Lipid metabolism (e.g., carnitine palmitoyltransferase deficiency, long-chain acyl-CoA dehydrogenase)
- Carbohydrate metabolism (e.g., most common is myophosphorylase deficiency aka McArdle disease, phosphofructokinase deficiency, phosphoglycerate mutase )
- Mitochondrial disorders (e ...
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