症状严重程度不同的卡恩斯-赛尔综合征内分泌失调:两份病例报告和文献综述。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL European Journal of Translational Myology Pub Date : 2024-10-30 DOI:10.4081/ejtm.2024.12897
Ilya I Amergoolov, Yulia I Khruleva, Maria G Pavlova, Natalia V Likhodey, Abu M Sulaev, Elena V Surkova, Yulia P Sych, Marina F Kalashnikova, Anna S Arustamyan, Gratsinna A Martirosyan, Simione T Lew-Gor
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引用次数: 0

摘要

卡恩斯-赛尔综合征(KSS)是线粒体脱氧核糖核酸(mtDNA)缺失引起的线粒体疾病的一种变异型。KSS 的临床表现可包括不同器官和系统的受累。不同器官的功能障碍(更常见的是心脏功能障碍)可导致死亡。迄今为止,尚无有效的治疗方法。在此,我们报告了两名 KSS 患者。女性患者的碱基对大范围缺失达 7,020 个,患有性腺功能减退症、糖尿病和血糖波动,全身健康状况较差。一名患有常见的 4 977 碱基对缺失的男性患者没有糖尿病,但糖耐量受损。他的一般健康水平也高于我们的女患者。这两名患者的骨密度(BMD)都有所降低。在女性患者中,钙和维生素 D 的补充与代谢疗法和营养饮料的补充相结合,有助于增加 BMD(L1-L4 达 32%)。对这两名患者进行比较表明,mtDNA缺失越大,病程就越严重。决定疾病严重程度的可能不仅是 mtDNA 缺失的大小,还有 mtDNA 异源水平、mtDNA 是否存在重复和多倍体等因素。此外,持续的非连续性代谢疗法和营养补充剂也有助于预防症状和总体健康状况的恶化。
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Endocrine disorders in Kearns-Sayre syndrome with different severity of symptoms: two case reports and a literature review.

Kearns-Sayre Syndrome (KSS) is a variant of mitochondrial disorder caused by a Mitochondrial Deoxyribonucleic Acid (mtDNA) deletion. Clinical manifestations of KSS can include different organ and system involvement. Different organ malfunctions, more often cardiac dysfunction, can lead to death. No effective treatment of this condition exists to date. Here, we report two patients with KSS. Female patient with a large-scale deletion of 7,020 base pairs (bp) suffered from hypogonadism, diabetes mellitus with fluctuating glucose levels, and had poor general health. A male patient with a common 4,977 bp deletion did not have diabetes mellitus but had impaired glucose tolerance. He also had a higher level of general health than our female patient. Both patients had reduced Bone Mineral Density (BMD). In female patients, calcium and vitamin D supplementation combined with metabolic therapy and nutritional drink supplements helped increase BMD (up to 32% in L1-L4). Comparing these two patients suggests that the larger the mtDNA deletion is, the more severe the course of the disease is. Not only does the size of the mtDNA deletion probably determine the severity of the disease, but also such factors as mtDNA heteroplasmy level, presence of mtDNA duplications, and pleioplasmy. Moreover, continuous nonconsecutive metabolic therapy and nutritional supplements are helpful in the prevention of deterioration of symptoms and general health.

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来源期刊
European Journal of Translational Myology
European Journal of Translational Myology MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.30
自引率
27.30%
发文量
74
审稿时长
10 weeks
期刊最新文献
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