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Serum creatine kinase (CK) concentration in the dystrophinopathies

Serum creatine kinase (CK) concentration in the dystrophinopathies
  Phenotype % of affected individuals Serum CK concentration
Male DMD 100%*[1,2] >10× normal
BMD 100%*[1,2] >5× normal
DMD-associated DCM Most individuals[3] "Increased"
Female DMD ~50%Δ[4,5] 2 to 10× normal
BMD ~30%Δ[4,5] 2 to 10× normal
CK: creatine kinase; DMD: Duchenne muscular dystrophy; DCM: dilated cardiomyopathy; BMB: Becker muscular dystrophy.
* Serum CK concentration gradually decreases with advancing age as a result of the progressive elimination of dystrophic muscle fibers that are the source of the elevated serum CK concentration.
¶ Serum CK concentrations are usually increased, but normal concentrations have been reported in DMD-associated DCM.
Δ Other investigations have confirmed a wide variability in serum CK concentration among DMD/BMD carriers with the mean serum CK concentration significantly higher in carriers age <20 years than in those age >20 years.
References:
  1. Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988; 318:1363.
  2. Zatz M, Rapaport D, Vainzof M, et al. Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy. J Neurol Sci 1991; 102:190.
  3. Mestroni L, Rocco C, Gregori D, et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol 1999; 34:181.
  4. Hoogerwaard EM, Bakker E, Ippel PF, et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999; 353:2116.
  5. Sumita DR, Vainzof M, Campiotto S, et al. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet 1998; 80:356.
Reproduced with permission from: Darras BT, Urion DK, Partha GS. Dystrophinopathies. In: GeneReviews, Adam MP, Ardinger HH, Pagon RA, Wallace SE (Eds), University of Washington, Seattle, 2000-2018. Copyright © 2000-2018 University of Washington, Seattle.
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