Relapsed 6q24-related transient neonatal diabetes mellitus successfully treated with sulfonylurea  

作　　者：Jun-Ling Fu Tong Wang Xin-Hua Xiao 

机构地区：[1]Department of Endocrinology,NHC Key Laboratory of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China

出　　处：《Chinese Medical Journal》2019年第7期846-848,共3页中华医学杂志（英文版）

摘　　要：To the Editor:Neonatal diabetes mellitus(NDM)is defined as diabetes diagnosed within 6 months after birth and occurs in approximately one in every 90,000 to 160,000 live births,with an 80%yield due to a known genetic diagnosis.NDM can be classified as transient(TNDM),permanent(PNDM),or syndromic,in which TNDM accounts for approximately 45%of all cases of NDM.Overexpression of genes on chromosome 6q24 is the most common cause of TNDM(OMIM_601410),which accounts for approximately 70%of all cases and occurs by one of three mechanisms:(1)paternal uniparental disomy(41%),(2)duplication of paternal alleles(33%),or(3)hypomethylation of the maternal allele(26%)[1].

关 键 词：NEONATAL diabetes mellitus(NDM) transient(TNDM) permanent(PNDM) 

分 类 号：R[医药卫生]