First cases of MPV17 related mitochondrial DNA depletion syndrome with compound heterozygous mutations in p.R50Q/p.R50W:a case report

作     者：Shuichiro Umetsu Ayano Inui Sohya Kobayashi Masaru Shimura Tomoko Uehara Hajime Uchida Rie Irie Tsuyoshi Sogo Haruki Komatsu Takako Yoshioka Kei Murayama Kenjiro Kosaki MureoKasahara Tomoo Fujisawa Shuichiro Umetsu;Ayano Inui;Sohya Kobayashi;Masaru Shimura;Tomoko Uehara;Hajime Uchida;Rie Irie;Tsuyoshi Sogo;Haruki Komatsu;Takako Yoshioka;Kei Murayama;Kenjiro Kosaki;Mureo Kasahara;Tomoo Fujisawa

作者机构：Department of Pediatric Hepatology and GastroenterologySaiseikai Yokohama City Tobu HospitalKanagawa 230-0012Japan Department of MetabolismChiba Children’s HospitalChiba 266-0007Japan Center for Medical GeneticsKeio University School of MedicineTokyo 160-8582Japan Department of Transplantation SurgeryNational Center for Child Health and DevelopmentTokyo 157-8535Japan Department of PathologyKeio University School of MedicineTokyo 160-8582Japan Department of PediatricsToho University Sakura Medical CenterChiba 285-8741Japan Department of PathologyNational Center for Child Health and DevelopmentTokyo 157-8535Japan 

出 版 物：《Hepatoma Research》 (肝癌研究（英文版）)

年 卷 期：2020年第6卷第1期

页      面：1-10页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：This study was supported by the following grants.Kei Murayama was supported by the Practical Research Project(19ek0109273 18ek0109177) 

主　　题：Mitochondrial DNA depletion syndrome MPV17 compound heterozygous mutation liver transplantation 

摘      要：Mutations in MPV17 lead to severe mitochondrial DNA depletion syndrome(MTDPS).All known p.R50W variants in MPV17 are *** homozygous variant p.R50Q in MPV17 among patients with Navajo neurohepatopathy is known to allow longer survival,although heterozygous variants p.R50Q have not been *** is the first clinical report in compound heterozygosity MPV17 mutation(p.R50W/p.R50Q).Three siblings were admitted due to multiple hepatic nodules;none presented neurological ***,they suffered from severe hypoglycemia and cyclic *** diagnosis of MPV17-related MTDPS was confirmed by detection of a compound heterozygous MPV17 mutation(p.R50W/p.R50Q),and striking reduction of hepatic mitochondrial *** patient developed pediatric-onset of hepatocellular ***,all patients survived for extended periods,including two patients who received liver transplantation,which contrasted the high mortality rate associated with p.R50W mutations,as previously *** p.R50Q mutation might be associated with longer survival and improved liver transplantation outcomes.