Hannah-Shmouni Fady, Sirrs Sandra, Mezei Michelle M, Waters Paula J, Mattman Andre
Internal Medicine Resident, Yale-New Haven Hospital, Yale University School of Medicine, New Haven, CT., USA,
JIMD Rep. 2014;12:17-23. doi: 10.1007/8904_2013_239. Epub 2013 Jul 12.
The pathophysiology of hypertension in patients with mitochondrial diseases is different from that of the general population. Growing evidence exists linking mtDNA, its mutations, and mitochondrial dysfunction to the pathogenesis of hypertension. No reports on the prevalence of hypertension in late-onset mtDNA diseases have been described.
We performed a retrospective chart review of adult patients with late-onset mtDNA diseases between January 1999 and January 2012 at our center. We grouped them into age categories to allow comparison with previously reported Canadian Health Measures Survey (CHMS) prevalence data.
Twenty-three subjects with hypertension were identified for a crude prevalence of 39.7 % (95 % CI 27-53 %) as compared to the CHMS age-predicted prevalence of 30.5 %. When analyzed by individual age group, there were no significant differences between the observed and the CHMS predicted prevalence rates in the 40 years and older cohorts (age category 40-59, p = 0.63; age category 60-79, p = 0.85). However, hypertension rates were significantly higher than predicted in the under 40 years cohort (55.6 vs. 2.8 %, p < 0.001, CI 21-86 %), in which hypertensive patients with the MELAS m.3243A>G mutation were significantly clustered (p < 0.01). This younger MELAS cohort (n = 4, mean age = 24 years) with hypertension had heteroplasmy levels (mean = 68 %) that were significantly higher than the levels found in the older non-hypertensive MELAS cohort (n = 8, mean age = 52 years, mean = 33 %) (p = 0.04).
Relative to age, gender, and mtDNA disease subtype, young adults with high heteroplasmy levels of the MELAS m.3243A>G mutation demonstrate an increased prevalence of hypertension. Further prospective data are needed to confirm this initial finding, which has potentially important treatment implications.
线粒体疾病患者高血压的病理生理学与普通人群不同。越来越多的证据表明，线粒体DNA（mtDNA）及其突变以及线粒体功能障碍与高血压的发病机制有关。目前尚无关于晚发性mtDNA疾病中高血压患病率的报道。
我们对1999年1月至2012年1月在本中心就诊的成年晚发性mtDNA疾病患者进行了回顾性病历审查。我们将他们按年龄分组，以便与先前报道的加拿大健康措施调查（CHMS）患病率数据进行比较。
确定了23例高血压患者，粗患病率为39.7%（95%可信区间27 - 53%），而CHMS按年龄预测的患病率为30.5%。按个体年龄组分析时，40岁及以上队列中观察到的患病率与CHMS预测的患病率之间无显著差异（年龄组40 - 59岁，p = 0.63；年龄组60 - 79岁，p = 0.85）。然而，40岁以下队列中的高血压患病率显著高于预测值（55.6%对2.8%，p < 0.001，可信区间21 - 86%），其中携带MELAS m.3243A>G突变的高血压患者显著聚集（p < 0.01）。这个患有高血压的年轻MELAS队列（n = 4，平均年龄 = 24岁）的异质性水平（平均 = 68%）显著高于年龄较大的非高血压MELAS队列（n = 8，平均年龄 = 52岁，平均 = 33%）（p = 0.04）。
相对于年龄、性别和mtDNA疾病亚型，携带MELAS m.32,43A>G突变且异质性水平高的年轻成年人高血压患病率增加。需要进一步的前瞻性数据来证实这一初步发现，这可能具有重要的治疗意义。
