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[杜氏肌营养不良症年轻女性携带者的检测]

[Detection of young female carriers of Duchenne muscular dystrophy].

作者信息

Alvarez Leal M A, Morales-Aguilera A

机构信息

División de Farmacología, Unidad de Investigación Biomédica del Noreste, Instituto Mexicano del Seguro Social, Monterrey, N.L., México.

出版信息

Arch Invest Med (Mex). 1990 Jul-Sep;21(3):269-72.

PMID:2131776
Abstract

36 females aged through 1 to 16 years were studied. They were sisters or close kin, on the maternal side, of patients with Duchenne's Muscular Dystrophy (DMD). 23 healthy controls were also studied so as to evaluate the usefulness of determining serum creatine phosphokinase (CPK) as means for detecting young carriers of DMD. 18 of 36 girls (50%) who were the daughters of the affected families, showed CPK seric values more than twice the standard deviation of the mean of the witness group (21 +/- 7.9 U/L). The Bayesian analysis performed on the problem group showed a good correspondence. These findings imply a high range of detection in possible carriers under 16 years of age. We believe that the absence of symptomatology in some of these girls does not eliminate the possibility of being a carrier.

摘要

对36名年龄在1至16岁之间的女性进行了研究。她们是杜氏肌营养不良症(DMD)患者的姐妹或母系近亲。还研究了23名健康对照者,以评估测定血清肌酸磷酸激酶(CPK)作为检测DMD年轻携带者方法的有效性。在受影响家庭的女儿中,36名女孩中有18名(50%)的血清CPK值超过了对照组平均值标准差的两倍(21 +/- 7.9 U/L)。对问题组进行的贝叶斯分析显示出良好的一致性。这些发现意味着16岁以下可能携带者的检测范围很高。我们认为,其中一些女孩没有症状并不排除她们成为携带者的可能性。

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