Yang Biying, Huang Sen, Zheng Yu, Hou Xiaomei, Lin Jianing, Peng Yu, Du Baoxin, Yao Xiaoli
Department of Neurology, Guangdong Provincial Hospital of Chinese Medicine, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China.
Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, Guangzhou, China.
Front Neurol. 2022 Jun 30;13:895321. doi: 10.3389/fneur.2022.895321. eCollection 2022.
Limited data exists on the clinical features of patients with amyotrophic lateral sclerosis (ALS) during reproductive ages.
Our study characterized the clinical features of ALS and the effects of pregnancy on disease progression in patients with ALS.
We performed a retrospective study of female patients with ALS in three ALS research centers in southern China from 2009 to 2021. Data regarding fertility status, and clinical and genetic features, were collected. Age-matched male patients with ALS served as controls. The patients were divided into the following two subgroups: patients with symptom onset within 1 year of pregnancy and patients with symptom onset over 1 year group after pregnancy.
A total of 52 female and 52 matched male patients were enrolled. There were no differences in female and male patients in the mean age of symptom onset, the mean baseline ALSFRS-R score, or median reduction of ALSFRS-R score ( > 0.05). The mean age of first pregnancy was 25.57 ± 4.40) years. The mean age of first pregnancy in the over 1 year group was lower than that in the within 1 year group (= 0.01). There was no difference in the median reduction of ALSFRS-R between the two subgroups. In the univariate analysis, diagnostic delay was highly correlated with the disease progression, with short delay representing rapid progress. No multicollinearity was found among every variable. In addition, 40.38% patients carried ALS-related gene variants. The proportion with gene mutations in the within 1 year group was higher than that in the over 1 year group ( < 0.01). Furthermore, SETX was the most frequently mutated gene in this cohort (16.67%) including 4 uncertain mutation.
Pregnancy and fertility were not associated with disease progression. Diagnostic delay was correlated with disease progression in this cohort. In addition, SETX might be a gene of concern for ALS patients of childbearing age.
关于育龄期肌萎缩侧索硬化症（ALS）患者临床特征的数据有限。
我们的研究旨在描述ALS的临床特征以及妊娠对ALS患者疾病进展的影响。
我们对2009年至2021年中国南方三个ALS研究中心的女性ALS患者进行了一项回顾性研究。收集了有关生育状况、临床和遗传特征的数据。年龄匹配的男性ALS患者作为对照。患者分为以下两个亚组：妊娠1年内出现症状的患者和妊娠1年后出现症状的患者。
共纳入52名女性和52名匹配的男性患者。女性和男性患者在症状出现的平均年龄、基线ALSFRS-R评分的平均值或ALSFRS-R评分的中位数降低方面无差异（P>0.05）。首次妊娠的平均年龄为25.57±4.40岁。1年以上组首次妊娠平均年龄低于1年以内组（P=0.01）。两个亚组之间ALSFRS-R的中位数降低无差异。在单因素分析中，诊断延迟与疾病进展高度相关，延迟短表示进展快。各变量之间未发现多重共线性。此外，40.38%的患者携带ALS相关基因变异。1年以内组基因突变的比例高于1年以上组（P<0.01）。此外，SETX是该队列中最常突变的基因（16.67%），包括4个不确定突变。
妊娠和生育与疾病进展无关。在该队列中，诊断延迟与疾病进展相关。此外，SETX可能是育龄期ALS患者需要关注的一个基因。
