肝脾肿大伴β脂蛋白缺乏症1例报告

1 病例资料患者男性,15岁,主因“发现肝功能异常2个月”于2020年10月5日就诊本院,否认发病前特殊用药史,否认饮酒史。患者于2个月前外院体检发现肝功能异常,无尿黄,无腹胀、腹痛,无皮肤瘙痒及陶土样便,无发热,无肢体无力等症状。TBil 23.5 μmol/L,ALT 118 U/L,AST 71 U/L,ALP 224 U/L,GGT 43.8 U/L,CHO 1.34 mol/L,TG 0.16 μmol/L,超声提示脂肪肝.

Unique Genetic Features of Lean NAFLD: A Review of Mechanisms and Clinical Implications

Non-alcoholic fatty liver disease(NAFLD)affects 25%of the global population.About 20%have a normal body mass index(BMI)and a variant known as lean NAFLD.Unlike typical NAFLD cases associated with obesity and diabetes,lean NAFLD causes liver disease by mechanisms not related to excess weight or insulin resistance.Genetic disorders are among the major factors in developing lean NAFLD,and genome-wide association studies have identified several genes associated with the condition.This review aims to increase awareness by describing the genetic markers linked to NAFLD and the defects involved in developing lean NAFLD.