ADAMTS3 and FLT4 gene mutations result in congenital lymphangiectasia in newborns:A case report  

作　　者：Zhu-Wei Liang Wan-Li Gao 

机构地区：[1]Department of Obstetrics and Gynecology,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China

出　　处：《World Journal of Clinical Cases》2023年第21期5179-5186,共8页世界临床病例杂志

基　　金：The Wu Jieping Medical Foundation Clinical Research Special Grant Fund in China,No.320.6750.2022-15-9.

摘　　要：BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ systems;however,it frequently occurs in the lungs accompanied with unexplained pleural effusion.Further,it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities.However,after birth the newborn rapidly develops respiratory distress that quickly deteriorates.Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease.We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes,which have not been reported previously.CASE SUMMARY We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth.An autopsy revealed lymphangiectasia of the organ systems.Further,whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes,ADAMTS3 and FLT4,and Sanger verification revealed similar lesions in the mother with no symptoms.CONCLUSION Considering the presented case,obstetricians should observe unexplained foetal pleural effusion,and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment.

关 键 词：Congenital lymphangiectasia ADAMTS3 FLT4 Gene mutations Foetal pleural effusion Case report 

分 类 号：R722.1[医药卫生—儿科]