Molecular Genetics and Metabolism Reports ( IF 1.8 ) Pub Date : 2020-11-29 , DOI: 10.1016/j.ymgmr.2020.100684 Yuto Arai 1 , Kiyotaka Kosugiyama 2 , Takuya Tamura 1 , Sasagu Matsumoto 1 , Akira Sudo 3 , Hideaki Shiraishi 2 , Cammack Ivor 4 , Akira Ohtake 5 , Kiyoshi Nagumo 1
Hypertension is a rare complication of Leigh Syndrome (LS), but prognosis of patients with hypertension is poor and its presence is indicative of the terminal stage of the disease. Herein, we report a four-year-old girl case diagnosed with LS at 15 months of age who subsequently developed severe hypertension and respiratory failure. Physical examination and laboratory findings did not indicate a secondary cause of hypertension. Her respiratory failure was treated with non-invasive ventilation and hypertension controlled with enalapril, furosemide and spironolactone. To our knowledge, this is the first case of a patient with LS recovering from severe hypertension.
中文翻译:
Leigh 综合征患者重度高血压成功康复
高血压是 Leigh 综合征 (LS) 的一种罕见并发症,但高血压患者的预后很差,它的存在表明该病已进入末期。在此,我们报告了一个在 15 个月大时被诊断为 LS 的 4 岁女孩病例,她随后发展为严重的高血压和呼吸衰竭。体格检查和实验室检查结果并未提示高血压的次要原因。她的呼吸衰竭接受了无创通气治疗,并用依那普利、呋塞米和螺内酯控制了高血压。据我们所知,这是首例从严重高血压中恢复的 LS 患者。