Perinatal management and genetic testing and for a puerperant affected with ATP7B gene variation in Wilson disease
10.3760/cma.j.cn101721-20220507-000170
- VernacularTitle:妊娠合并肝豆状核变性ATP7B基因变异分析及围产期管理
- Author:
Yi SONG
1
;
Yan LONG
;
Siyu JIA
;
Wei ZHANG
;
Peng LI
;
Jian HUANG
;
Xiaojuan OU
;
Hua YANG
Author Information
1. 首都医科大学附属北京友谊医院北京市临床医学研究所，北京 100050
- Keywords:
Wilson disease;
Perinatal management;
ATP7B gene;
Gene mutation
- From:
Clinical Medicine of China
2022;38(5):401-405
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the perinatal management of patients with WD during pregnancy, and to determine its genetic etiology and the possibility of fetal morbidity using the genetic detection of amniotic fluid and umbilical cord blood.Method:In terms of fine management during the perinatal period, a case of K-F ring was found in the Ophthalmology Department of Beijing Friendship Hospital, Capital Medical University in March 2019 due to eye astringency and eye swelling, and the hepatology department further diagnosed WD for one artificial abortion. After the second pregnancy in October 2020, multidisciplinary consultation and standardized treatment during pregnancy including gynecology and obstetrics, liver disease center, anesthesiology department, gastroenterology department and nutrition department were carried out. The genomes of patients' venous blood, amniotic fluid and umbilical cord blood were extracted and analyzed for ATP7B gene variation by Sanger sequencing.Result:Through multi-disciplinary collaborative management, the patient gave birth successfully in the case of pregnancy complicated with liver cirrhosis, portal hypertension, splenomegaly with hyperfunction, thrombocytopenia, anemia, esophageal and gastric varices and other complications. The phenotype of the newborn was normal, and the Apgar score was 10-10-10. Sequencing results showed that the patient had ATP7B p.Arg778Leu and p.Val890Met, which were missense heterozygous variants reported in the mutation database, and ACMG was classified as pathogenic variants. The results of amniotic fluid and umbilical cord blood showed that the fetus had only p.Arg778Leu single heterozygous variation, and it was predicted that there would be no clinical phenotype of WD.Conclusion:Perinatal multidisciplinary collaborative management has important protective significance for the successful pregnancy of patients with WD. Genetic screening of amniotic fluid and umbilical cord blood is conducive to early detection of fetal WD.
