ArticleInternational journal of nephrology2011
Renal mitochondrial cytopathies.
Article in International journal of nephrology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- Mitochondrial DNA Analysis Should Be Considered in the Genetic Assessment of Focal Segmental Glomerulosclerosis or Unexplained Chronic Kidney Disease: A Case Report.Kidney medicine · 2026Article
- Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novoJIMD reports · 2022Article
- Fanconi syndrome, nephrotic-range proteinuria, and hypoalbuminemia in a newborn-Occam's razor or Hickam's dictum? Answers.Pediatric nephrology (Berlin, Germany) · 2022Article
- Comprehensive Metabolic Signature of Renal Dysplasia in Children. A Multiplatform Metabolomics Concept.Frontiers in molecular biosciences · 2021Article
- Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports.BMC nephrology · 2020Article
- tRNA fragmentation and protein translation dynamics in the course of kidney injury.RNA biology · 2018Review
- Mitochondrial Disease in Children: The Nephrologist's Perspective.JIMD reports · 2018Article
- Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.Pediatric nephrology (Berlin, Germany) · 2017Article
- Elevated Urinary Glyphosate and Clostridia Metabolites With Altered Dopamine Metabolism in Triplets With Autistic Spectrum Disorder or Suspected Seizure Disorder: A Case Study.Integrative medicine (Encinitas, Calif.) · 2017Article
- Focal segmental glomerulosclerosis associated with mitochondrial disease.Clinical nephrology. Case studies · 2017Article
- Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.Molecular genetics and metabolism reports · 2016Article
- Mitochondrial dysfunction in inherited renal disease and acute kidney injury.Nature reviews. Nephrology · 2016Review
- Loss of Renal Tubular PGC-1α Exacerbates Diet-Induced Renal Steatosis and Age-Related Urinary Sodium Excretion in Mice.PloS one · 2016Article
- Deficient Autophagy Results in Mitochondrial Dysfunction and FSGS.Journal of the American Society of Nephrology : JASN · 2015Article
- Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Journal of inherited metabolic disease · 2015Review
- Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome.Case reports in pediatrics · 2013Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Renal diseases in mitochondrial cytopathies are a group of rare diseases that are characterized by frequent multisystemic involvement and extreme variability of phenotype. Most frequently patients present a tubular defect that is consistent with complete De Toni-Debré-Fanconi syndrome in most severe forms. More rarely, patients present with chronic tubulointerstitial nephritis, cystic renal diseases, or primary glomerular involvement. In recent years, two clearly defined entities, namely 3243 A > G tRNA(LEU) mutations and coenzyme Q10 biosynthesis defects, have been described. The latter group is particularly important because it represents the only treatable renal mitochondrial defect. In this paper, the physiopathologic bases of mitochondrial cytopathies, the diagnostic approaches, and main characteristics of related renal diseases are summarized.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.