儿童黑素皮质素受体 4 缺乏症致严重阻塞性睡眠呼吸暂停
Severe obstructive sleep apnea in a child with melanocortin-4 receptor deficiency.
机构信息
Divisions of Respiratory and Sleep Medicine.
Endocrinology.
出版信息
J Clin Sleep Med. 2014 Jan 15;10(1):99-101. doi: 10.5664/jcsm.3374.
Abstract
Obstructive sleep apnea (OSA) is a highly prevalent medical condition in obese children and is associated with significant neurocognitive, cardiovascular and metabolic derangements. Monogenic forms of obesity resulting from disruption of the leptin-melanocortin pathways have become more notable in recent years and distinguish between various obese phenotypes. However, the association of such disorders with OSA is not well established in children or adults. In this report, we describe a 23-month-old female with morbid obesity and OSA, who was found to carry a defect in the melanocortin-4 receptor (MC4R) pathway. This report emphasizes the genetic basis of obesity related to MC4R deficiency and OSA in children.
摘要
阻塞性睡眠呼吸暂停（OSA）是肥胖儿童中一种高发的医学病症，与显著的神经认知、心血管和代谢紊乱有关。近年来，由于瘦素-黑皮质素途径中断导致的单基因肥胖形式变得更加显著，并区分了各种肥胖表型。然而，在儿童或成人中，这些疾病与 OSA 的关联尚未得到很好的确立。在本报告中，我们描述了一名 23 个月大的女性患有病态肥胖和 OSA，她被发现携带黑素皮质素-4 受体（MC4R）途径缺陷。本报告强调了与 MC4R 缺乏和儿童 OSA 相关的肥胖的遗传基础。
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