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[评估肌酸磷酸激酶活性在墨西哥蒙特雷市家庭中检测杜兴氏型肌营养不良症携带者的应用]

[Evaluation of the activity of creatine phosphokinase for the detection of carriers of Duchenne-type muscular dystrophy in families in the city of Monterrey, Mexico].

作者信息

Alvarez Leal M, Ortiz Mariscal J D, Narro Juárez A, Solís Alanís J G, Morales Aguilera A

机构信息

Unidad de Investigación Biomédica del Noreste, IMSS.

出版信息

Rev Invest Clin. 1990 Jan-Mar;42(1):39-45.

PMID:2236973
Abstract

The activity of serum creatine phosphokinase (CPK) was determined in 80 female members of 23 families with affected members of Duchenne type muscular dystrophy (DMD) and compared with the values of a control group of 100 unaffected women. The control group values exhibited a normal distribution of frequency with a mean of 21 U/L and standard deviation from the mean of 7.9 U/L. Sixty nine percent (11/16) of obligatory carriers showed CPK values higher than the mean of the control group plus two standard deviations of the mean. Thirty one percent (5/16) had false negative values. These percentages are similar to those reported in other studies. Elevated CPK activity was found in 45% (18/40) of type A possible carriers (relatives of obligatory carriers) and the group of possible carriers type B (mothers and relatives of isolated cases) 42% (10/24) exhibited high CPK values. Bayesian analysis was also used in all possible-carriers (A and B). We also report an estimation of the fertility of the DMD gene carriers and of their attitude towards family planning. It is concluded that the determination of serum CPK activity, despite its shortcomings, associated with Bayesian analysis when necessary, could be the method of choice for quick and inexpensive evaluation of the carrier status, mainly in families with members affected by DMD.

摘要

对23个患有杜氏型肌营养不良症(DMD)患者的家庭中的80名女性成员测定了血清肌酸磷酸激酶(CPK)活性,并与100名未受影响女性的对照组数值进行了比较。对照组数值呈现出频率的正态分布,平均值为21 U/L,与平均值的标准差为7.9 U/L。69%(11/16)的 obligatory carriers显示CPK值高于对照组平均值加上平均值的两个标准差。31%(5/16)有假阴性值。这些百分比与其他研究报告的相似。在45%(18/40)的A型可能携带者(obligatory carriers的亲属)中发现CPK活性升高,B型可能携带者组(散发病例的母亲和亲属)中42%(10/24)呈现出高CPK值。还对所有可能携带者(A和B型)进行了贝叶斯分析。我们还报告了对DMD基因携带者生育能力及其对计划生育态度的估计。结论是,血清CPK活性的测定,尽管有其缺点,但在必要时与贝叶斯分析相结合,可能是快速且廉价地评估携带者状态的首选方法,主要适用于有DMD患者的家庭。

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