脂肪营养不良-一种罕见的情况与严重的代谢异常

L. Chung, Yanfei Qi
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引用次数: 1

摘要

脂肪营养不良是一种罕见的脂质储存障碍,其特征是脂肪组织的损失。它可以因单基因突变而遗传,也可以因药物和自身免疫性疾病而获得。遗传性脂肪营养不良的两种主要形式是先天性全身性脂肪营养不良,表现为自出生以来几乎完全失去脂肪组织,以及家族性部分脂肪营养不良,表现为在儿童晚期和青春期逐渐失去部分脂肪组织。脂肪营养不良会导致严重的代谢疾病,包括胰岛素抵抗、2型糖尿病、肝赘肉病、多囊卵巢综合征、黑棘皮病和高血压。本章总结了遗传和获得性脂肪营养不良的症状、原因和治疗方法。
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Lipodystrophy - A Rare Condition with Serious Metabolic Abnormalities
Lipodystrophy is a rare lipid storage disorder that is characterized by a loss of adipose tissue. It can be inherited due to monogenic mutation or acquired by medi-cation and autoimmune illness. Two primary forms of inherited lipodystrophy are congenital generalized lipodystrophy manifested as a near-complete loss of fat tissue since birth and familial partial lipodystrophy with progressive, partial loss of fat tissue during late childhood and puberty. Lipodystrophy results in severe metabolic conditions, including insulin resistance, type 2 diabetes, hepatosteatosis, polycystic ovary syndrome, acanthosis nigricans, and hypertension. This chapter summarizes the symptoms, causes, and treatments of inherited and acquired lipodystrophy.
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