Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions
Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions
复制标题
两名线粒体 DNA 缺失女孩的多系统疾病的非典型表现
DOI：
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发表时间：
2005
影响因子：
3.6
通讯作者：
B. Kristiansson
中科院分区：
文献类型：
--
作者：
M. Tulinius;A. Oldfors;E. Holme;N. Larsson;M. Houshmand;P. Fahleson;L. Sigström;B. Kristiansson
我们描述了两个女孩与非典型介绍多系统疾病由于线粒体DNA（mtDNA）缺失。1例患者在4岁时因甲状旁腺功能减退而出现疼痛性腕足痉挛。该疾病进展迅速，出现躯干和肢体共济失调、痉挛性轻瘫、肌无力和消瘦、色素性视网膜变性和感音神经性听力丧失。她有身材矮小和白癜风斑块，多毛症，贫血，糖尿病和胰腺外分泌功能障碍。另一名女孩在6岁时因肾小管功能障碍而出现多饮、多尿和疲劳。该疾病呈隐匿性进展，生长不良，并出现感音神经性听力损失、肌无力以及躯干和肢体共济失调。形态学，酶组织化学和生化研究表明，骨骼肌，肝脏和肾脏的线粒体功能障碍，在一个病人和骨骼肌和肝脏的其他。这两个病人有很大比例的mtDNA分子与删除在肝脏，肾脏，骨骼肌和bloodcells.ConclusionIt可以得出结论，从几个不同的器官的症状可能是第一个表现的mtDNA缺失障碍。
We describe two girls with atypical presentations of multisystem disorders due to deletions in mitochondrial DNA (mtDNA). One presented with painful carpopedal spasms due to hypoparathyroidism at the age of 4 years. The disease was rapidly progressive with development of truncal and limb ataxia, spastic paraparesis, muscle weakness and wasting, pigmentary retinal degeneration and sensorineural hearing loss. She had short stature and vitiligo patches, hirsutism, anaemia, diabetes mellitus and exocrine pancreatic dysfunction. The other girl presented at the age of 6 years with polydipsia, polyuria and fatigue due to renal tubular dysfunction. The disease was insidiously progressive with poor growth and development of sensorineural hearing loss, muscle weakness and truncal and limb ataxia. Morphological, enzyme histochemical and biochemical investigations indicated mitochondrial dysfunction of skeletal muscle, liver and kidney in one patient and of skeletal muscle and liver in the other. Both patients had large proportions of mtDNA molecules with deletion in liver, kidney, skeletal muscle and blood cells.ConclusionIt may be concluded that symptoms from several different organs may be the first manifestation of a mtDNA deletion disorder.
患有卡恩斯-塞尔综合征和洛伊综合征的女孩的线粒体 DNA 缺失：表型拟态的一个例子？
DOI：
10.1002/ajmg.1320410308
发表时间：
1991
期刊：
American journal of medical genetics
影响因子：
--
作者：
Moraes,CT;Zeviani,M;Schon,EA;Hickman,RO;Vlcek,BW;DiMauro,S
通讯作者：
DiMauro,S