Genetic forms of the cardiometabolic syndrome: what can they tell the clinician?
Genetic forms of the cardiometabolic syndrome: what can they tell the clinician?
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DOI：
10.1111/j.1559-4564.2007.05905.x
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发表时间：
2007-01-01
期刊：
影响因子：
--
通讯作者：
Hegele, Robert A
中科院分区：
文献类型：
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作者：
Yuan, George;Hegele, Robert A
一句广为流传的医学格言说：“当你听到马蹄声时，想想马，而不是斑马。“当将这一原则应用于心脏代谢综合征（CMS）时，马将以流行的CMS表型为代表，这种表型影响了西方社会中约30%的个体，而斑马则以非常罕见的疾病为代表-例如脂肪代谢障碍综合征-与更流行的CMS共享一些特征。例如，家族性部分脂肪营养不良2型和3型分别由编码核纤层蛋白A/C的LMNA和编码过氧化物酶体增殖物激活受体（PPAR）-γ的PPARG中的杂合突变引起。任何一种亚型的部分性脂肪代谢障碍患者表现出中心与外周脂肪储存的比例增加，代谢障碍，血脂异常和高血压，易患胰岛素抵抗型糖尿病和动脉粥样硬化终点。然而，有时，斑马作为一个模型，可以帮助我们了解马，使罕见的部分脂肪营养不良可能提供一些深入了解发病机制和治疗更普遍的CMS。
A well-worn medical aphorism states that "when you hear hoof beats, think of a horse and not a zebra." When applying this principle to the cardiometabolic syndrome (CMS), the horse would be represented by the prevalent CMS phenotype that affects approximately 30% of individuals in Westernized societies, while the zebra is represented by very rare conditions--such as lipodystrophy syndromes--that share some features with the more prevalent CMS. For instance, familial partial lipodystrophy types 2 and 3 result from heterozygous mutations in LMNA, encoding nuclear lamin A/C, and in PPARG, encoding peroxisome proliferator-activated receptor (PPAR)-gamma, respectively. Patients with either subtype of partial lipodystrophy exhibit an increased ratio of central to peripheral fat stores, dysglycemia, dyslipidemia, and hypertension, with predisposition for developing insulin-resistant diabetes and atherosclerosis end points. Sometimes, however, the zebra serves as a model that can help us understand the horse, so that the rare partial lipodystrophies might offer some insight into pathogenesis and treatment of the more prevalent CMS.