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Text
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<a href="http://doi.org/10.1542/peds.2004-0718" target="_blank" rel="noreferrer">http://doi.org/10.1542/peds.2004-0718</a>
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Title
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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease
Publisher
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Pediatrics
Date
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2004
Subject
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Child; Female; Humans; infant; Male; Mutation; Survival Analysis; adolescent; Preschool; Non-U.S. Gov't; Research Support; infant; Newborn; retrospective studies; Age of Onset; DNA; Cardiomyopathies/etiology/mortality; Electron Transport; Electron Transport Chain Complex Proteins/deficiency; Mitochondrial; Mitochondrial Diseases/complications/genetics/mortality; Neuromuscular Diseases/etiology/mortality
Creator
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Scaglia F; Towbin JA; Craigen WJ; Belmont JW; Smith EO; Neish SR; Ware SM; Hunter JV; Fernbach SD; Vladutiu GD; Wong LJ; Vogel H
Description
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OBJECTIVES: The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features. METHODS: We performed a retrospective review of the medical records of 400 patients who were referred for evaluation of mitochondrial disease. By use of the modified Walker criteria, only patients who were assigned a definite diagnosis were included in the study. RESULTS: A total of 113 pediatric patients with mitochondrial disease were identified. A total of 102 (90%) patients underwent a muscle biopsy as part of the diagnostic workup. A significant respiratory chain (RC) defect, according to the diagnostic criteria, was found in 71% of the patients who were evaluated. In this cohort, complex I deficiency (32%) and combined complex I, III, and IV deficiencies (26%) were the most common causes of RC defects, followed by complex IV (19%), complex III (16%), and complex II deficiencies (7%). Pathogenic mitochondrial DNA abnormalities were found in 11.5% of the patients. A substantial fraction (40%) of patients with mitochondrial disorders exhibited cardiac disease, diagnosed by Doppler echocardiography; however, the majority (60%) of patients had predominant neuromuscular manifestations. No correlation between the type of RC defect and the clinical presentation was observed. Overall, the mean age at presentation was 40 months. However, the mean age at presentation was 33 months in the cardiac group and 44 months in the noncardiac group. Twenty-six (58%) patients in the cardiac group exhibited hypertrophic cardiomyopathy, 29% had dilated cardiomyopathy, and the remainder (13%) had left ventricular noncompaction. Patients with cardiomyopathy had an 18% survival rate at 16 years of age. Patients with neuromuscular features but no cardiomyopathy had a 95% survival at the same age. CONCLUSIONS: This study gives strong support to the view that in patients with RC defects, cardiomyopathy is more common than previously thought and tends to follow a different and more severe clinical course. Although with a greater frequency than previously reported, mitochondrial DNA mutations were found in a minority of patients, emphasizing that most mitochondrial disorders of childhood follow a Mendelian pattern of inheritance.
2004
Identifier
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<a href="http://doi.org/10.1542/peds.2004-0718" target="_blank" rel="noreferrer">10.1542/peds.2004-0718</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2004
Adolescent
Age of Onset
Backlog
Belmont JW
Cardiomyopathies/etiology/mortality
Child
Craigen WJ
DNA
Electron Transport
Electron Transport Chain Complex Proteins/deficiency
Female
Fernbach SD
Humans
Hunter JV
Infant
Journal Article
Male
Mitochondrial
Mitochondrial Diseases/complications/genetics/mortality
Mutation
Neish SR
Neuromuscular Diseases/etiology/mortality
Newborn
Non-U.S. Gov't
Pediatrics
Preschool
Research Support
Retrospective Studies
Scaglia F
Smith EO
Survival Analysis
Towbin JA
Vladutiu GD
Vogel H
Ware SM
Wong LJ