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Causes of HyperCKemia in Children: A Retrospective Cohort Study.

Background and Objectives: Creatine kinase (CK) is a commonly used screening test for neuromuscular disorders (NMDs). However, hyperCKemia can result from several pathologic and physiologic causes. We analyzed neuromuscular disorders in noninfant children with hyperCKemia including those with no weakness and mild CK elevations (<5 times the upper limit of normal). We hypothesized that children with mild CK elevation and no weakness would be unlikely to have neuromuscular disorders and require additional evaluation. Methods: We retrospectively evaluated patients between 1 and 18 years of age seen at a single children's hospital over a 3-calendar-year period with initial total CK values greater than the upper limit of normal with at least 2 years of follow-up data. Final diagnoses were analyzed and associations with possible risk factors assessed. Receiver operating characteristic curves were generated to assess altering CK cutoff values. Results: Of 260 subjects with hyperCKemia, 18 had a neuromuscular disorder (6.9%, 95% confidence interval [CI] 4.2%-10.9%). Of 166 subjects with CK <5 times the upper limit of normal and no weakness, 8 had a neuromuscular disorder (4.8%, 95% CI 2.3%-9.6%). Weakness (odds ratio [OR] 32.5, 95% CI 4-385, P  = .0002), and family history of neuromuscular disorders (OR not calculable, P  = .0003) were associated with neuromuscular disorders. An optimal CK threshold of 777 was identified on receiver operating characteristic curve analysis (sensitivity of 72% and specificity of 64%). The most commonly identified neuromuscular disorders were muscular dystrophies, inflammatory myopathies, and metabolic myopathies. Conclusion: Most children with hyperCKemia will not be diagnosed with a neuromuscular disorder, but a significant minority even with mild hyperCKemia and without weakness may warrant additional evaluation.

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