ArticleJIMD reports2018
Mitochondrial Disease in Children: The Nephrologist's Perspective.
Article in JIMD reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Kidney transplantation in mitochondrial diseases: a systematic review.Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- Functional Reconstitution of Mitochondrial Respiratory Supercomplexes.Journal of visualized experiments : JoVE · 2026Article
- Mesenchymal Stromal Cells and Extracellular Vesicles: A Novel Therapeutic Paradigm for Mitochondrial Dysfunctions.International journal of molecular sciences · 2026Review
- Evaluation of endpoints for the study and diagnosis of mitochondrial toxicity and disease: a narrative review.Mutagenesis · 2023Review
- Recent advances in mitochondrial diseases: From molecular insights to therapeutic perspectives.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022Review
- Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.Kidney diseases (Basel, Switzerland) · 2022Article
- Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome.Molecular genetics & genomic medicine · 2021Article
- Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.Current genetic medicine reports · 2018Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
objectiveTo review the importance of the kidney in MD from the nephrologist's perspective within the setting of a pediatric tertiary reference center. STUDY
designRetrospective study of children (<18 years) with MD followed between 2000 and 2016 at a tertiary Spanish center.
results52 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.
conclusionsRenal 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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