Τίτλος:
Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Assessing long-term mortality and identifying predictors of death in adults with mitochondrial diseases. We retrospectively included adult patients with genetically proven mitochondrial diseases referred to our centre between January 2000 and June 2016, and collected information relative to their genetic testing, clinical assessments, and vital status. We performed single and multiple variable analyses in search of predictors of total mortality, and calculated hazard ratios (HR) and 95% confidence intervals (CI). We included 267 patients (women 59%; median age 43.3 [31.3-54.2] years), including 111 with mitochondrial DNA (mtDNA) single large-scale deletions, 65 with m.3243A>G, 24 with m.8344A>G, 32 with other mtDNA point mutations, and 36 patients with nuclear genes mutations. Over a median follow-up of 8.9 years (0.3 to 18.7), 61 patients (22.8%) died, at a median age of 50.7 (37.9-51.9) years. Primary cause of death was cardiovascular disease in 16 patients (26.2%), respiratory in 11 (18.0%), and gastrointestinal in 5 (8.1%). By multiple variable analysis, diabetes (HR 2.75; 95% CI 1.46-5.18), intraventricular cardiac conduction defects (HR 3.38; 95% CI 1.71-6.76) and focal brain involvement (HR 2.39; 95% CI 1.25-4.57) were independent predictors of death. Adult patients with mitochondrial diseases present high morbidity that can be independently predicted by the presence of diabetes, intraventricular cardiac conduction defects, and focal brain involvement. © 2019 SSIEM
Συγγραφείς:
Papadopoulos, C.
Wahbi, K.
Behin, A.
Bougouin, W.
Stojkovic, T.
Leonard-Louis, S.
Berber, N.
Lombès, A.
Duboc, D.
Jardel, C.
Eymard, B.
Laforêt, P.
Περιοδικό:
Journal of Inherited Metabolic Disease
Εκδότης:
John Wiley and Sons Inc
Λέξεις-κλειδιά:
adenine; guanine; mitochondrial DNA; mitochondrial DNA, adult; Article; brain; cardiovascular disease; cause of death; clinical assessment; cohort analysis; confidence interval; controlled study; disorders of mitochondrial functions; female; follow up; gastrointestinal disease; gene; gene deletion; genetic screening; hazard ratio; heart muscle conduction disturbance; human; incidence; major clinical study; male; morbidity; mortality; patient referral; point mutation; prognosis; respiratory tract disease; retrospective study; disorders of mitochondrial functions; epidemiology; France; genetics; incidence; middle aged; mutation; prognosis; survival analysis, Adult; Cause of Death; DNA, Mitochondrial; Female; France; Humans; Incidence; Male; Middle Aged; Mitochondrial Diseases; Mutation; Prognosis; Retrospective Studies; Survival Analysis
