Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby
Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby
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患有肌病 VLCAD 缺陷的患者在怀孕期间怀有受影响婴儿的临床过程
DOI：
10.1002/jmd2.12061
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发表时间：
2019
期刊：
影响因子：
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通讯作者：
Taketani Takeshi
中科院分区：
文献类型：
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作者：
Yamada Kenji;Matsubara Keiichi;Matsubara Yuko;Watanabe Asami;Kawakami Sanae;Ochi Fumihiro;Kuwabara Kozue;Mushimoto Yuichi;Kobayashi Hironori;Hasegawa Yuki;Fukuda Seiji;Yamaguchi Seiji;Taketani Takeshi
极长链酰基辅酶A脱氢酶（VLCAD）缺乏症是一种常染色体隐性线粒体脂肪酸氧化障碍，表现为三种临床形式：（a）重度，（B）轻度和（c）肌病。肌病患者在青春期或成年期出现间歇性肌肉症状，如肌痛、肌无力和横纹肌溶解。在这里，一名患有肌病形式VLCAD缺乏症的31岁孕妇的临床症状和血清肌酸激酶（CK）水平在怀孕期间降低。临床症状很少出现在怀孕期间，虽然她有时遭受肌肉症状怀孕前。当妊娠35周时给予利托君治疗先兆早产时，她的CK水平升高至3900 IU/L以上。她通过剖宫产分娩了一个足月婴儿，但分娩后不久就出现肌无力伴CK水平升高。据报道，未受影响的胎盘和胎儿可以改善妊娠期间母体的β-氧化。然而，在我们的病例中，婴儿也受到VLCAD缺乏症的影响。这些表明，即使胎儿受到VLCAD缺乏症的影响，VLCAD缺乏症女性的临床症状也可能在妊娠期间减轻。
Very long‐chain acyl‐CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive mitochondrial fatty acid oxidation disorder that manifests in three clinical forms: (a) severe, (b) milder, and (c) myopathic. Patients with the myopathic form present intermittent muscular symptoms such as myalgia, muscle weakness, and rhabdomyolysis during adolescence or adulthood. Here, the clinical symptoms and serum creatine kinase (CK) levels of a pregnant 31‐year‐old woman with the myopathic form of VLCAD deficiency were reduced during pregnancy. Clinical symptoms rarely appeared during pregnancy, although she had sometimes suffered from muscular symptoms before pregnancy. When ritodrine was administered for threatened premature labor at 35 weeks of gestation, her CK level was elevated to over 3900 IU/L. She delivered a full‐term baby via cesarean section but suffered from muscle weakness with elevated CK levels soon after delivery. It has been reported that an unaffected placenta and fetus can improve maternal β‐oxidation during pregnancy. However, in our case, the baby was also affected by VLCAD deficiency. These suggest that the clinical symptoms of a woman with VLCAD deficiency might be reduced during pregnancy even if the fetus is affected with VLCAD deficiency.