ArticleClinical nephrology. Case studies2017
Focal segmental glomerulosclerosis associated with mitochondrial disease.
Article in Clinical nephrology. Case studies, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood.Kidney international reports · 2026Review
- Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis.Kidney research and clinical practice · 2026Article
- The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations.International journal of molecular sciences · 2026Article
- 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
- Late-onset mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes with chronic intestinal pseudo-obstruction: a case-based review.Frontiers in molecular biosciences · 2026Review
- Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025Review
- Mitochondrial DNA mutations in renal disease: an overview.Pediatric nephrology (Berlin, Germany) · 2021Review
- Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle.Frontiers in genetics · 2019Review
- Deletion of the Mitochondrial Complex-IV Cofactor Heme A:Farnesyltransferase Causes Focal Segmental Glomerulosclerosis and Interferon Response.The American journal of pathology · 2018Article
- Comment to: Focal segmental glomerulosclerosis associated with mitochondrial disease by Lim et al. in Clin Nephrol Case Stud. 2017; 5: 20-25.Clinical nephrology. Case studies · 2018Article
- Response to the Letter to the Editor by Finsterer and Zarrouk-Mahjoub in Clin Nephrol Case Stud. 2018; 6: 1.Clinical nephrology. Case studies · 2018Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging. Physical examination was remarkable for difficulty hearing, a pattern of dysarthric speech, and cerebellar gait. Laboratory investigations including lactate levels were unremarkable. Based on this set of clinical circumstances, concern for an underlying genetic abnormality was raised. Multiple metabolic tests were unremarkable. Whole exome sequencing revealed a mitochondrial MT-TW tRNA change at position m.5538G>A. Genotype-phenotype correlations are consistent with this tRNA mutation as a cause of his symptoms. To the best of our knowledge, this is the first case describing FSGS-associated MD caused by an m.5538 G>A mutation. Consideration of an underlying MD should be made in patients presenting with deafness, neurologic changes, diabetes, and renal failure.
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