PDF(Pubmed)
Abstract：
Kearns-Sayre syndrome (KSS) is a mitochondrial encephalopathic disorder. Because mitochondria are ubiquitous organelles that are present in almost every human tissue, their dysfunction can affect nearly any organ system and give rise to a wide range of clinical characteristics. 1: As is the case with most diseases associated with mitochondrial DNA (mtDNA) mutations, the clinical features of KSS were defined before modern molecular genetic classifications emerged. 2: The exact prevalence of KSS is unknown; however, estimates place it at about 1:100,000 people. Although it is a rather rare syndrome, the ability to recognize or consider KSS as part of a differential diagnosis is crucial. Reported here are two case reports: 1) a 30-year-old Caucasian female patient who presented for evaluation to her primary care physician\'s office and, and 2) A 57-year-old Caucasian female patient long-term C care resident. Guidelines are listed for management as a primary care physician as well as signs and symptoms that are often associated with Kearns-Sayre syndrome and other mitochondrial disorders.
摘要：
Kearns-Sayre综合征（KSS）是一种线粒体脑病。因为线粒体是普遍存在的细胞器，几乎存在于每个人体组织中，它们的功能障碍可以影响几乎任何器官系统，并引起广泛的临床特征。1：与大多数与线粒体DNA（mtDNA）突变相关的疾病一样，KSS的临床特征在现代分子遗传学分类出现之前就已确定.2：KSS的确切患病率未知；然而，估计大约有1:100,000人。虽然这是一种相当罕见的综合症，识别或考虑KSS作为鉴别诊断的一部分的能力至关重要.这里报告了两个病例报告：1）一名30岁的白人女性患者，她向她的初级保健医生办公室进行评估，和2)一名57岁的白人女性患者长期C护理住院医师。列出了作为初级保健医师的管理指南以及通常与Kearns-Sayre综合征和其他线粒体疾病相关的体征和症状。
