特发性高肌酸激酶血症患者孕期肌酸激酶水平的正常化

Normalization of creatine kinase level during pregnancy in idiopathic hyperCKemia.

作者信息

Fukutake T, Hattori T

机构信息

Department of Neurology (D3), Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo-ku, 260-8670, Chiba, Japan.

出版信息

Clin Neurol Neurosurg. 2001 Oct;103(3):168-70. doi: 10.1016/s0303-8467(01)00135-4.

DOI:10.1016/s0303-8467(01)00135-4

PMID:11532557

Abstract

A 34-year-old previously healthy woman with no remarkable family history developed asymptomatic hyperCKemia at age 26. Over the next 6 years, hyperCKemia persisted (502-2562 IU/l; normal range<180). A muscle biopsy showed minimal nonspecific myopathy. Genetic analysis of blood and muscle samples showed no abnormality in the dystrophin gene. At age 33, she became pregnant for the first time and serum creatine kinase (CK) was normal at 170 IU/l in the third trimester. After delivery, hyperCKemia reappeared (715-2620) while her baby tested normal for CK. This is the first report of idiopathic hyperCKemia associated normalization of serum CK level during pregnancy, which has been reported in carriers of Duchenne muscular dystrophy.

摘要

一名34岁既往健康、无显著家族史的女性在26岁时出现无症状性高肌酸激酶血症。在接下来的6年里，高肌酸激酶血症持续存在（502 - 2562 IU/l；正常范围<180）。肌肉活检显示为轻度非特异性肌病。对血液和肌肉样本进行的基因分析显示，肌营养不良蛋白基因无异常。33岁时，她首次怀孕，孕晚期血清肌酸激酶（CK）正常，为170 IU/l。分娩后，高肌酸激酶血症再次出现（715 - 2620），而她的宝宝CK检测正常。这是首次报道特发性高肌酸激酶血症在孕期血清CK水平恢复正常，这种情况曾在杜氏肌营养不良症携带者中报道过。