关键词: 先天性全身脂肪营养不良；　AGPAT2基因；　美曲普汀

Abstract: Objective　To report a case of congenital generalized lipodystrophy, with mutation in AGPAT2 gene. Method Clinical data, the result of laboratory and gene tests were retrospectively analyzed, and related literatures were reviewed. Result A 12-year-old girl was admitted into our department for polydipsia, diuresis and weight loss. Physical examination and laboratory tests found the triangle face, lack of subcutaneous fat, strong muscles, acanthosis nigricans, diabetes, hypertriglyceridemia and fatty liver. The gene test identified compound heterozygous mutations of c.379G>C inherited from her father and c.317-10T>A inherited from her mother in AGPAT2 gene. According to the ACMG guidelines, c.379G>C is likely pathogenic while c.317-10T>A is of uncertain significance. After treatment of insulin and metformin, the patient’s blood glucose is well controlled. Conclusion This case is the second case with AGPAT2 gene mutation reported in China. C.379G>C and c.317-10T>A are novel mutations which have not been reported.

Key words: congenial generalized lipodystrophy;　AGPAT2 gene;　metreleptin