Sanai Hiromi, Nakamura Yasuhiko, Koike Yuta, Murota Hiroyuki, Kosho Tomoki, Sase Masakatsu
Department of Obstetrics and Gynecology, Yamaguchi Prefectural Grand Medical Center, Hofu, Yamaguchi, Japan.
Department of Medical Genetics, Yamaguchi Prefectural Grand Medical Center, Hofu, Yamaguchi, Japan.
J Obstet Gynaecol Res. 2023 Mar;49(3):1043-1047. doi: 10.1111/jog.15541. Epub 2023 Jan 4.
We reported a detailed obstetric course of a Japanese patient with Ehlers-Danlos syndrome (EDS) caused by biallelic pathogenic variants in the AEBP1 gene. She was diagnosed with classical EDS at 3 years of age. At 33 years, whole-exome sequencing revealed a homozygous nonsense variant (c.1894C > T:p.Arg632*) in AEBP1. This is the 10th case of AEBP1-related EDS (classical-like EDS type 2) and the first in Japan. She was managed as an inpatient at our hospital beginning at 20 weeks of gestation because of the possibility of high-risk pregnancy. She experienced painful urinary retention, migraines, and threatened premature labor. She delivered a healthy female via elective caesarean section at 32 weeks of gestation. She was treated in the intensive care unit for severe paralytic ileus, postoperatively. Conservative therapy resulted in favorable outcomes, and she was safely discharged on postdelivery day 22nd.
我们报告了一名日本患者的详细产科病程，该患者因AEBP1基因双等位基因致病性变异而患有埃勒斯-当洛综合征（EDS）。她在3岁时被诊断为经典型EDS。33岁时，全外显子组测序显示AEBP1基因存在纯合无义变异（c.1894C＞T:p.Arg632*）。这是第10例与AEBP1相关的EDS（2型经典样EDS）病例，也是日本首例。由于存在高危妊娠的可能性，她在妊娠20周时开始在我院住院治疗。她经历了疼痛性尿潴留、偏头痛和先兆早产。她在妊娠32周时通过择期剖宫产分娩了一名健康女婴。术后，她因严重麻痹性肠梗阻在重症监护病房接受治疗。保守治疗取得了良好效果，她在产后第22天安全出院。
