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.
JIMD Reports
|December 18, 2017
Summary
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.
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