Novak E M, Longui C A, Bydlowski S P
Research and Molecular Biology Division, Pró-Sangue Hemocentro de São Paulo Foundation, Brazil.
Sao Paulo Med J. 1997 Nov-Dec;115(6):1593-5. doi: 10.1590/s1516-31801997000600007.
Congenital generalized lipodystrophy is a rare inherited disease. One of its features is a disturbance in lipid metabolism characterized by hypercholesterolemia and hypertriglyceridemia. A brother and a sister with congenital generalized lipodystrophy, an 8-year old male and a 12-year old female were studied. The mother and a 6-year old brother were healthy. The genetic analysis of Sstl RFLP of the apo AI-CIII-AIV gene cluster showed the presence of the rare Sstl allele (S2) in the patients but not in the healthy mother and brother. As this uncommon allele has been reported to be related to high plasma triglyceride levels, this association could be relevant in explaining in part the hypertriglyceridemia observed in these patients.
先天性全身性脂肪营养不良是一种罕见的遗传性疾病。其特征之一是脂质代谢紊乱，表现为高胆固醇血症和高甘油三酯血症。对一名患有先天性全身性脂肪营养不良的8岁男性和一名12岁女性的兄妹进行了研究。母亲和一名6岁的弟弟身体健康。对载脂蛋白AI-CIII-AIV基因簇的Sstl RFLP进行基因分析，结果显示患者存在罕见的Sstl等位基因（S2），而健康的母亲和弟弟则没有。由于据报道这种罕见等位基因与高血浆甘油三酯水平有关，这种关联可能在一定程度上有助于解释这些患者中观察到的高甘油三酯血症。
