Why the study?
Can creatine kinase and pyruvate kinase levels be used to estimate heterozygosity risks for young females in Duchenne muscular dystrophy?
Can creatine kinase and pyruvate kinase levels be used to estimate heterozygosity risks for young females in Duchenne muscular dystrophy?
CK and PK levels decrease linearly with age in young DMD carriers, and their measurement can be used in discriminant analysis to estimate heterozygosity risk.
May aid DMD carrier risk estimation via CK/PK discriminant analysis in young females; leaves open prospective validation before clinical use.
Using the data from daughters of known carriers and from age-paired controls, we present a method for estimating the mean and variance of creatine kinase (CK) and pyruvate kinase (PK) in pre-menarchal and early adolescent Duchenne muscular dystrophy (DMD) carriers. CK and PK means and variances were estimated for different age ranges; it is shown that among DMD carriers the levels of both enzymes decrease linearly with age. A discriminant analysis was further performed for the estimation of biochemical risks favouring the diagnosis of heterozygosity for possible young carriers. The use of this method may also be applicable for other X-linked conditions in which the detection of heterozygotes is probabilistic.
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Passos-Bueno et al. (1989) studied this question.
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