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- W1569198066 abstract "Introduction: Mitochondrial diseases are a clinically, biochemically and genetically heterogeneous group of disorders with a variable age of onset and rate of disease progression. It might therefore be expected that this variation be reflected in the age and cause of death. However, to date, little has been reported regarding the ‘end-of-life’ period and causes of death in mitochondrial disease patients. For some specific syndromes, the associated clinical problems might predict the cause of death, but for many patients, it remains difficult to provide an accurate prognosis. Aims: To describe a retrospective cohort of adult mitochondrial disease patients who had attended the NHS Highly Specialised Services for Rare Mitochondrial Diseases in Newcastle upon Tyne (UK), evaluate life expectancy and causes of death and assess the consequences for daily patient care. Methods: All deceased adult patients cared for at this centre over a period of 10 years were included in the study. Patient history, data on laboratory findings, biochemical investigations and genetic studies were analysed retrospectively. Results: A total of 30 adult mitochondrial patients died within the time period of the study. The main mitochondrial disease-related causes of death in this patient cohort were respiratory failure, cardiac failure and acute cerebral incidents such as seizures and strokes. In almost half of the patients, the cause of death remained unknown. Based on our study, we present recommendations regarding the care of patients with mitochondrial disease." @default.
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- W1569198066 date "2015-01-01" @default.
- W1569198066 modified "2023-10-18" @default.
- W1569198066 title "Causes of Death in Adults with Mitochondrial Disease" @default.
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- W1569198066 doi "https://doi.org/10.1007/8904_2015_449" @default.
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