Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain
Manuel Castro-Gago1, Manuel O Blanco-Barca, Yolanda Campos-González
1Departamento de Pediatría, Servicio de Neuropediatría Hospital 12 de Octubre, Madrid, Spain. pdcastro@usc.es
Insights
Mitochondrial respiratory chain diseases are more common in children than previously thought, with Leigh syndrome being the most frequent. This study provides new incidence and prevalence data for various mitochondrial disorders in pediatric patients.
Area of Science:
- Pediatric Neurology
- Mitochondrial Diseases
- Genetics
Background:
- Knowledge of mitochondrial respiratory chain diseases has grown, but prevalence and incidence data, especially in pediatric populations, remain limited.
- Understanding the epidemiology and clinical spectrum of these rare diseases is crucial for diagnosis and management.
Purpose of the Study:
- To estimate the incidence and prevalence of mitochondrial respiratory chain diseases in pediatric patients (ages 0-16 years).
- To characterize the clinical, biochemical, histologic, and genetic features of these patients.
- To compare these estimates with previous studies and identify any novel phenotypic associations.
Main Methods:
- Retrospective analysis of 51 pediatric patients (ages 0-16) diagnosed with mitochondrial respiratory chain diseases.
- Estimation of incidence and prevalence rates for overall disease and specific subtypes.
- Review of clinical, biochemical, histologic, and genetic data.
Main Results:
- Overall annual incidence: 1.43 cases/10^5 (general population), 2.85 cases/10^5 (under-6).
- Overall prevalence: 7.5 cases/10^5 (under-19), 8.7 cases/10^5 (under-16).
- Prevalence estimates for specific conditions: Leigh syndrome (2.05/10^5), mtDNA deletions/duplications (0.68/10^5), mtDNA depletions (1.59/10^5), mtDNA point mutations (0.45/10^5).
- Leigh syndrome was the most common clinical presentation.
- Sixteen patients presented with previously unreported phenotypic syndromes associated with these diseases.
Conclusions:
- Incidence and prevalence of mitochondrial respiratory chain diseases in pediatric populations appear higher than previously reported.
- Mitochondrial deoxyribonucleic acid (mtDNA) depletions may be more prevalent than previously estimated, while deletions and point mutations may be less common.
- The study identified novel phenotypic presentations, expanding the known spectrum of mitochondrial respiratory chain diseases.
Abstract:
Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemical, histologic, and genetic characteristics of 51 patients age 0-16 years. The overall annual incidence of all mitochondrial respiratory chain diseases was estimated to be 1.43 cases per 10(5) in the population as a whole, and 2.85 cases per 10(5) in the under-6 population. The overall prevalence of all mitochondrial respiratory chain diseases was estimated as 7.5 cases per 10(5) in the under-19 population, and 8.7 cases per 10(5) in the under-16 population. These incidence and prevalence estimates are higher than in most previous studies of pediatric populations. Estimated prevalences of specific mitochondrial respiratory chain diseases were 2.05 cases per 10(5) for Leigh syndrome, 0.68 per 10(5) for mitochondrial deoxyribonucleic acid (mtDNA) deletions and deletions-duplications, 1.59 per 10(5) for mtDNA depletions, and 0.45 per 10(5) for mtDNA point mutations. Leigh syndrome was the most frequent clinical syndrome. The estimates of the prevalences of mtDNA deletions, deletions-duplications, and point mutations set forth here are lower than in similar previous studies, whereas the estimate of the prevalence of mtDNA depletions is rather higher. Sixteen of these patients manifested phenotypic syndromes that have not been previously reported in association with mitochondrial respiratory chain diseases.
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