Rudnik-Schöneborn Sabine, Witsch-Baumgartner Martina, Zerres Klaus
Institute of Human Genetics, Medical Faculty Uniklinik RWTH Aachen, Aachen, Germany.
Gynecol Obstet Invest. 2016;81(5):472-6. doi: 10.1159/000446944. Epub 2016 Jun 15.
There are only few reports of pregnancy and delivery in non-dystrophic myotonia or periodic paralysis caused by CLCN1 or SCN4A gene mutations.
We report the medical histories and personal attitudes of 5 unrelated German patients, 2 following autosomal recessive inheritance (case 1; most likely and case 2; confirmed Becker disease) and 3 following autosomal dominant inheritance (case 3; CLCN1 mutation, cases 4-5; SCN4A mutations), who delivered a total of 9 children.
Apart from case 5 with periodic paralysis, who had 5 early miscarriages and pre-eclampsia resulting in cesarean delivery, there was no evidence of increased obstetric complication rates, and neonatal outcome was favorable. In all patients, there was aggravation of myotonia or weakness in pregnancy, followed by a short-term improvement after delivery in cases 2 and 3. Mexiletine medication improved the clinical features significantly in case 2 but was unable to control pregnancy-related deterioration. In case 4 (and her sister) and case 5, there was a clear disease aggravation in pregnancy resulting in hospitalization or repeated neurological examinations.
Pregnancy can be regarded as a strong triggering factor in inherited non-dystrophic myotonias and periodic paralysis, regardless of the underlying gene defect.
关于由CLCN1或SCN4A基因突变引起的非萎缩性肌强直或周期性麻痹患者的妊娠和分娩情况，仅有少数报道。
我们报告了5名不相关的德国患者的病史和个人态度，其中2例为常染色体隐性遗传（病例1；极有可能是贝克病，病例2；确诊为贝克病），3例为常染色体显性遗传（病例3；CLCN1突变，病例4 - 5；SCN4A突变），这些患者共分娩了9名子女。
除了患有周期性麻痹的病例5有5次早期流产和先兆子痫并最终剖宫产外，没有证据表明产科并发症发生率增加，且新生儿结局良好。所有患者在孕期肌强直或肌无力均加重，病例2和病例3在产后短期内有所改善。美西律治疗使病例2的临床症状显著改善，但未能控制与妊娠相关的病情恶化。病例4（及其姐妹）和病例5在孕期病情明显加重，导致住院或反复进行神经学检查。
无论潜在的基因缺陷如何，妊娠都可被视为遗传性非萎缩性肌强直和周期性麻痹的一个强烈触发因素。
