Kearns-Sayre syndrome: a case series of 35 adults and children
Kearns-Sayre syndrome: a case series of 35 adults and children
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DOI：
10.2147/ijgm.s65560
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发表时间：
2014-01-01
影响因子：
2.3
通讯作者：
Wittich, Christopher M.
中科院分区：
文献类型：
--
作者：
Khambatta, Sherezade;Nguyen, Douglas L.;Wittich, Christopher M.
背景：卡恩斯-塞尔综合征（KSS）是一种罕见的线粒体细胞病变，1958年在梅奥诊所首次被发现。目的：我们的目的是确定一大批成人和儿童KSS患者的患者和疾病特征。方法：回顾性检索梅奥诊所医学索引患者数据库中1976年至2009年KSS患者的记录。对35例KSS患者的人口学特征、体征和症状、诊断特征、临床演变以及疾病特征与残疾发展之间的关系进行分析。结果：KSS出现时的平均（标准[SD]）年龄为17（10）岁，而诊断时的平均年龄为26（15）岁。所有患者均出现眼部症状，神经系统和心脏受累也很常见。在该系列研究中，只有4名患者（11%）死亡，但所有的死亡都是由于心脏突发事件。身体残疾的发展与认知能力下降显著相关（P=0.004），但与其他临床特征（如性别或心源性猝死）无关。结论：我们报告了迄今为止来自单一机构的KSS患者的最大病例系列。除了在之前的研究中发现的传导系统异常外，我们的队列还包括晕厥和心源性猝死的患者。这强调了在KSS患者中考虑正式的电生理研究和预防性除颤器的必要性。
Background: Kearns-Sayre syndrome (KSS) is a rare mitochondrial cytopathy, first described at Mayo Clinic in 1958.Aims: We aimed to define patient and disease characteristics in a large group of adult and pediatric patients with KSS.Methods: We retrospectively searched the Mayo Clinic medical index patient database for the records of patients with KSS between 1976 and 2009. The 35 patients identified with KSS were analyzed in terms of demographic characteristics, presenting signs and symptoms, diagnostic features, clinical evolution, and associations between disease features and the development of disability.Results: The mean (standard [SD]) age at KSS presentation was 17 (10) years, but the mean age at diagnosis was 26 (15) years. Ophthalmologic symptoms developed in all patients, and neurologic and cardiac involvement was common. Only four patients (11%) in the series died, but all deaths were from sudden cardiac events. The development of physical disability was significantly associated with cognitive decline (P=0.004) but not with other clinical features, such as sex or sudden cardiac death.Conclusion: We report the largest case series to date of patients with KSS from a single institution. In addition to the conduction system abnormalities identified in previous series, our cohort included patients with syncope and sudden cardiac death. This underscores the need to consider formal electrophysiologic studies and prophylactic defibrillators in patients with KSS.