ArticleBiomedical reports2017
Renal manifestations of primary mitochondrial disorders.
Article in Biomedical reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed.
- MELAS Syndrome Presenting with Hypertrophic Cardiomyopathy and Advanced Heart Failure: A Multisystem Diagnostic Challenge.Journal of clinical medicine · 2026Article
- NMR-based urinary biomarkers in pediatric primary mitochondrial disorders and chronic kidney disease: shared mitochondrial dysfunction, diverging biosignatures.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Mitochondrial organization in the developing proximal tubule is controlled by LRRK2.Nature communications · 2025Article
- Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.International journal of molecular sciences · 2025Review
- Polyendocrinopathy and multisystem involvement are common phenotypic features of Kearns-Sayre syndrome.European journal of translational myology · 2025Article
- Advances in focal segmental glomerulosclerosis research: genetic causes to non-coding RNAs.Molecular biology reports · 2025Review
- Management of refractory acidosis caused by massive bicarbonaturia in GRACILE syndrome: a quiz.Journal of nephrology · 2025Article
- Incidental finding of MELAS in a young woman with decompensated heart failure and end stage kidney disease: a case report.European heart journal. Case reports · 2025Article
- Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.Clinical and experimental nephrology · 2025Review
- Article
- Administration of bicarbonates through percutaneous gastrostomy with continuous nocturnal infusion in a patient with Kearns-Sayre disease: a life changing therapeutical paradigm.Italian journal of pediatrics · 2024Article
- Retinoic acid receptor α activity in proximal tubules prevents kidney injury and fibrosis.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Mitochondrial Chronic Progressive External Ophthalmoplegia.Brain sciences · 2024Review
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.Balkan journal of medical genetics : BJMG · 2023Article
- Vitamin A and retinoid signaling in the kidneys.Pharmacology & therapeutics · 2023Review
- Kidney-Related Function of Mitochondrial Protein Mitoregulin.International journal of molecular sciences · 2023Article
- Severe Antenatal Hypertrophic Cardiomyopathy Secondary toMolecular syndromology · 2023Article
- Effects of Antioxidant Combinations on the Renal Toxicity Induced Rats by Gold Nanoparticles.Molecules (Basel, Switzerland) · 2023Article
- Cardiac Involvement in Mitochondrial Disorders.Current heart failure reports · 2023Review
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2 authors.
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Abstract
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms. Among the syndromic MIDs, renal involvement has been most frequently reported in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome, Kearns-Sayre syndrome, Leigh syndrome and mitochondrial depletion syndromes. Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome. The present study proposes that the frequency of renal involvement in MIDs is probably underestimated. Diagnosis of renal involvement follows general guidelines and treatment is symptomatic. Thus, renal manifestations of primary MIDs require recognition and appropriate management, as they determine the outcome of MID patients.
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