沙特阿拉伯一对同胞兄妹患先天性全身脂肪营养不良：病例报告
Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report.
作者信息
Hummadi Abdulrrahman, Nahari Ahmed Ali, Alhagawy Ali Jaber, Zakri Ibrahim, Abutaleb Raed, Yafei Saeed
机构信息
Jazan Endocrinology and Diabetes Center Ministry of Health Jazan Saudi Arabia.
King Fahd Diabetes and Endocrinology Center King Fahd hospital Jazan Saudi Arabia.
出版信息
Clin Case Rep. 2022 Apr 20;10(4):e05720. doi: 10.1002/ccr3.5720. eCollection 2022 Apr.
Abstract
Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanthosis due to very rare homozygous 1-acylglycerol-3-phosphate O-acyltransferase β (AGPAT2) genetic variant.
摘要
1型先天性全身脂肪营养不良（CGL1）是一种非常罕见的常染色体隐性基因突变，伴有全身脂肪萎缩和代谢并发症。我们报告了两名沙特女性同胞患有CGL1，她们因非常罕见的纯合子1-酰基甘油-3-磷酸O-酰基转移酶β（AGPAT2）基因变异而出现脂肪萎缩、糖尿病、高甘油三酯血症、脂肪性肝炎和棘皮症。
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