Henwood Maria J, Thornton Paul S, Preis Christina M, Chee Clare, Grimberg Adda
Division of Pediatric Endocrinology, Columbus Children's Hospital, Columbus, Ohio, USA.
J Child Neurol. 2006 May;21(5):436-9. doi: 10.1177/08830738060210051001.
A 4-year-old girl with pyruvate dehydrogenase deficiency, static encephalopathy, and seizure disorder treated with the ketogenic diet presented in severe diabetic ketoacidosis. Pyruvate dehydrogenase deficiency is a rare genetic defect of mitochondrial energy metabolism that leads to inefficient glucose use and lactic acidosis. The ketogenic diet provides the brain with an alternate fuel source, but its implementation opposes traditional diabetes management. Faced with this therapeutic dilemma, we aimed to maintain ketosis without compromising safety to optimize neurologic function and quality of life. This is the first report, to our knowledge, of a child simultaneously treated with the ketogenic diet and exogenous insulin. A 28-month follow-up revealed excellent glycemic control, improved activity level, significant developmental achievements, and, perhaps most striking, catch-up linear growth from < 5th percentile to the 50th percentile. Her progress to date indicates that diabetes does not preclude use of the ketogenic diet.
一名4岁患有丙酮酸脱氢酶缺乏症、静止性脑病和癫痫症的女孩采用生酮饮食治疗，出现了严重的糖尿病酮症酸中毒。丙酮酸脱氢酶缺乏症是一种罕见的线粒体能量代谢遗传缺陷，会导致葡萄糖利用效率低下和乳酸酸中毒。生酮饮食为大脑提供了一种替代燃料来源，但其实施与传统糖尿病管理相悖。面对这一治疗困境，我们旨在维持酮症状态而不影响安全性，以优化神经功能和生活质量。据我们所知，这是首例同时接受生酮饮食和外源性胰岛素治疗的儿童报告。28个月的随访显示血糖控制良好、活动水平改善、取得显著发育成果，或许最引人注目的是线性生长从低于第5百分位追赶至第50百分位。她目前的进展表明，糖尿病并不妨碍使用生酮饮食。
