Mitochondrial Disease in Children: The Nephrologist's Perspective
Paula Pérez-Albert1, Carmen de Lucas Collantes2, Miguel Ángel Fernández-García3
1Department of Pediatrics, Children's University Hospital Niño Jesús, Madrid, Spain. paulaperezalbert@gmail.com.
Insights
Renal disease affects 25% of children with mitochondrial diseases (MD). Early screening for kidney issues and involving pediatric nephrologists in multidisciplinary care is crucial for managing these hereditary metabolic disorders.
Area of Science:
- Pediatric Nephrology
- Mitochondrial Diseases
- Hereditary Metabolic Disorders
Background:
- Mitochondrial diseases (MD) are a prevalent group of hereditary metabolic disorders affecting multiple organ systems.
- The kidney's role in pediatric MD is often underappreciated, necessitating a focused review from a nephrologist's viewpoint.
Purpose of the Study:
- To review the significance of kidney involvement in pediatric mitochondrial diseases.
- To highlight the nephrologist's perspective in managing these complex cases within a tertiary care setting.
Main Methods:
- Retrospective study of pediatric patients (<18 years) diagnosed with mitochondrial disease.
- Data collected from patients followed between 2000 and 2016 at a Spanish tertiary center.
Main Results:
- Renal involvement was detected in 25% of the 52 included pediatric patients.
- Common renal manifestations included tubular disease (e.g., hypercalciuria, hypouricemia) and glomerular disease (proteinuria, decreased GFR).
- Only 40% of patients with MD and renal involvement were seen by a pediatric nephrologist.
Conclusions:
- Renal disease is a frequent complication in pediatric mitochondrial disease, affecting a significant proportion of patients.
- Regular screening for renal function and early nephrologist consultation are essential for comprehensive MD management.
Abstract:
Mitochondrial diseases (MD) are a heterogeneous group of clinical syndromes characterized by the involvement of different organ systems. They constitute the most prevalent hereditary metabolic disease group.
Objective:
To review the importance of the kidney in MD from the nephrologist's perspective within the setting of a pediatric tertiary reference center.
Study Design:
Retrospective study of children (<18 years) with MD followed between 2000 and 2016 at a tertiary Spanish center.
Results:
52 patients were included. The mean age at the time of the study was 10 years (SD ± 5.1). The mean follow-up time was 6.1 years (SD ± 4.7). The median age at diagnosis was 2.5 years (0.3-13.5).The median number of affected systems was two (range 1-6). The nervous system was the most affected system, with 51 patients (~98%) presenting with neurological involvement. 20 patients (~40%) presented with endocrinological manifestations, 18 (~35%) with vision problems, 16 (~30%) with gastrointestinal symptoms, 5 (~10%) patients developed hearing impairment, and 6 (~10%) cardiac disease.We detected renal involvement in 13 patients (25%). Eight patients had tubular disease, most frequently hypercalciuria with hypouricemia and five patients had glomerular involvement, with proteinuria and/or decreased glomerular filtration rate as the most frequent symptoms. Only 21 patients (~40%) had been seen by a pediatric nephrologist.
Conclusions:
Renal disease was a common occurrence in patients with mitochondrial disease, present in our study in 25% of patients. A regular screening of renal function parameters and the involvement of a nephrologist as part of the multidisciplinary approach to mitochondrial disease appears warranted.
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