ArticlePediatric nephrology (Berlin, Germany)2013
Mitochondrial disease--an important cause of end-stage renal failure.
Article in Pediatric nephrology (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic variants affecting mitochondrial function provide further insights for kidney disease.BMC genomics · 2024Article
- Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.Balkan journal of medical genetics : BJMG · 2023Article
- Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?International journal of molecular sciences · 2023Review
- Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature.Oxford medical case reports · 2023Article
- Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction.PLoS genetics · 2022Article
- 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
- Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports.BMC nephrology · 2020Article
- Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.Frontiers in genetics · 2019Review
- Shortage of Cellular ATP as a Cause of Diseases and Strategies to Enhance ATP.Frontiers in pharmacology · 2019Article
- [An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.Pediatric nephrology (Berlin, Germany) · 2018Article
- Mitochondrial Disease in Children: The Nephrologist's Perspective.JIMD reports · 2018Article
- Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.BMC research notes · 2016Article
- Loss of Renal Tubular PGC-1α Exacerbates Diet-Induced Renal Steatosis and Age-Related Urinary Sodium Excretion in Mice.PloS one · 2016Article
- Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.Journal of inherited metabolic disease · 2015Article
- A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.BMC nephrology · 2013Article
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2 authors at 2 institutions in 2 countries.
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Abstract
Kidneys are highly aerobic organs. They receive roughly a quarter of the cardiac output and contain a high density of mitochondria, particularly in the cortical tubules, which are required to produce adenosine triphosphate (ATP) in sufficient quantity to power the re-uptake of over 98 % of the filtered load. Given the dependence of renal function on aerobic metabolism, it is not surprising that impairment of normal mitochondrial function-due to insults such as ischaemia, drug toxicity and genetic mitochondrial disease-can lead to kidney failure. In this edition of Pediatric Nephrology, D'Aco and colleagues (doi: 10.1007/s00467-012-2354-y ) describe a patient who developed end-stage renal failure caused by a pathogenic mutation (m.586G > A) in the gene encoding the mitochondrial tRNA for phenylalanine, which adversely affects the translation of mitochondrial DNA. The pathogenicity of this mutation was confirmed in cybrid studies using fibroblasts obtained from the patient. In light of this report, m.586G > A should now be added to the rapidly expanding list of mitochondrial and nuclear gene mutations causing mitochondrial disease with renal involvement. Furthermore, mitochondrial disease should be considered as an underlying aetiology in cases of unexplained renal failure, particularly in the context of a multisystem disorder. Renal replacement therapy is an option for patients with mitochondrial disease, but life expectancy even with this therapy may be limited by co-morbidities.
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