国际内分泌代谢杂志
國際內分泌代謝雜誌
국제내분비대사잡지
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2013年
4期
250-254
,共5页
青少年发病的成人型糖尿病%糖尿病%基因
青少年髮病的成人型糖尿病%糖尿病%基因
청소년발병적성인형당뇨병%당뇨병%기인
Maturity-onset diabetes of the young%Diabetes mellitus%Gene
青少年发病的成人型糖尿病(MODY)是一组青年起病的常染色体显性遗传病.目前,MODY按致病基因至少可分为13型:MODY1(肝细胞核因子4α,HNF4α),MODY2(葡萄糖激酶,GCK),MODY3(肝细胞核因子1α,HNF1α),MODY4(胰岛素启动因子1,IPF1),MODY5(肝细胞核因子1β,HNF1β),MODY6(神经元分化因子1,NEUROD1),MODY7(kruppel样因子11,KLF11),MODY8 (羧基酯脂肪酶,CEL),MODY9(成对盒基因4,PAX4),MODY10(胰岛素基因),MODY11(B淋巴细胞激酶,BLK),MODY12(ATP结合C家族8因子,ABCC8)和MODY13(内向整流性钾离子通道J家族11因子,KCNJ11).其发病机制、临床表现和治疗方法各有不同.
青少年髮病的成人型糖尿病(MODY)是一組青年起病的常染色體顯性遺傳病.目前,MODY按緻病基因至少可分為13型:MODY1(肝細胞覈因子4α,HNF4α),MODY2(葡萄糖激酶,GCK),MODY3(肝細胞覈因子1α,HNF1α),MODY4(胰島素啟動因子1,IPF1),MODY5(肝細胞覈因子1β,HNF1β),MODY6(神經元分化因子1,NEUROD1),MODY7(kruppel樣因子11,KLF11),MODY8 (羧基酯脂肪酶,CEL),MODY9(成對盒基因4,PAX4),MODY10(胰島素基因),MODY11(B淋巴細胞激酶,BLK),MODY12(ATP結閤C傢族8因子,ABCC8)和MODY13(內嚮整流性鉀離子通道J傢族11因子,KCNJ11).其髮病機製、臨床錶現和治療方法各有不同.
청소년발병적성인형당뇨병(MODY)시일조청년기병적상염색체현성유전병.목전,MODY안치병기인지소가분위13형:MODY1(간세포핵인자4α,HNF4α),MODY2(포도당격매,GCK),MODY3(간세포핵인자1α,HNF1α),MODY4(이도소계동인자1,IPF1),MODY5(간세포핵인자1β,HNF1β),MODY6(신경원분화인자1,NEUROD1),MODY7(kruppel양인자11,KLF11),MODY8 (최기지지방매,CEL),MODY9(성대합기인4,PAX4),MODY10(이도소기인),MODY11(B림파세포격매,BLK),MODY12(ATP결합C가족8인자,ABCC8)화MODY13(내향정류성갑리자통도J가족11인자,KCNJ11).기발병궤제、림상표현화치료방법각유불동.
Maturity-onset diabetes of the young (MODY) is a young-onset diabetes mellitus with a autosomal-dominant mode of transmission.At least thirteen subtypes with distinct genetic aetiologies have been reported:MODY1 (hepatocyte nuclear factor 4α,HNF4α),MODY2 (glucokinase,GCK),MODY3 (hepatocyte nuclear factor 1α,HNF1α),MODY4 (insulin promoter factor 1,IPF1),MODY5 (hepatocyte nuclear factor 1β,HNF1β),MODY6 (neurogenic differentiation factor 1,NEUROD 1),MODY7 (kruppel-like factor 11,KLF11),MODY8 (carboxyl-ester lipase,CEL),MODY9 (paired-homeodomain transcription factor,PAX4),MODY10 (insulin gene),MODY1 1 (B-lymphocyte kinase,BLK),MODY1 2 (ATP-binding cassette,sub-family C member 8,ABCC8,and MODY13 (potassium inwardly-rectifying channel,subfamily J,member 11,KCNJ11).The etiopathogenisis,clinic phenotype and treatment of them are different.
