中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2009年
1期
120-123
,共4页
胰岛素抵抗%突变%胰岛素受体基因%脂肪营养不良
胰島素牴抗%突變%胰島素受體基因%脂肪營養不良
이도소저항%돌변%이도소수체기인%지방영양불량
Insulin resistance%Mutation%Insulin receptor gene%Lipodystrophy
临床上存在多种由单基因突变所导致的胰岛素抵抗综合征,如胰岛素受体基因突变造成的严重胰岛素抵抗综合征,核纤层蛋白(LMNA)基因突变导致的脂肪营养不良综合征等,以下将对这些疾病的临床特点、突变基因及发病机制作一综述.
臨床上存在多種由單基因突變所導緻的胰島素牴抗綜閤徵,如胰島素受體基因突變造成的嚴重胰島素牴抗綜閤徵,覈纖層蛋白(LMNA)基因突變導緻的脂肪營養不良綜閤徵等,以下將對這些疾病的臨床特點、突變基因及髮病機製作一綜述.
림상상존재다충유단기인돌변소도치적이도소저항종합정,여이도소수체기인돌변조성적엄중이도소저항종합정,핵섬층단백(LMNA)기인돌변도치적지방영양불량종합정등,이하장대저사질병적림상특점、돌변기인급발병궤제작일종술.
Several insulin resistance syndromes, such as severe insulin resistance syndrome caused by mutations of insulin receptor gene and lipodystrophy caused by mutations of lamin gene, have been characterized clinically. The gene mutations, pathogenesis and clinical features of these monogenie diseases were reviewed in this article.
