ReviewPediatric nephrology (Berlin, Germany)2012
Renal involvement in mitochondrial cytopathies.
Review in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
62 citing papers in PubMed, 1 synthesis or guideline pooled it, 127 citations in OpenAlex.
- Kidney biopsy guidebook 2020 in Japan.Clinical and experimental nephrology · 2021Guideline
- Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood.Kidney international reports · 2026Review
- Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease.Kidney international reports · 2026Article
- Clinical Validation of Digital PCR for Precise m.3243A>G Heteroplasmy Quantification in Early-Onset Diabetes.Journal of diabetes research · 2026Article
- Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025Review
- Advances in Management of Mitochondrial Myopathies.International journal of molecular sciences · 2025Review
- Success of Coenzyme Q10 in Treating Steroid-Resistant Nephrotic Syndrome in Jordan: A Case Series.Cureus · 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
- Endocrine system disturbances in children with inherited metabolic diseases: a narrative review.Frontiers in endocrinology · 2025Review
- Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.Journal of rare diseases (Berlin, Germany) · 2025Article
- Article
- From Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective.Kidney diseases (Basel, Switzerland) · 2024Review
- Atypical presentation of Pearson syndrome in an infant with suspected myelodysplastic syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Article
- 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
- Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.Journal of medical genetics · 2023Article
- In Reply to "The Spectrum of Renal Abnormalities in Mitochondrial Disorders Is Broad".Kidney international reports · 2022Article
- Heteroplasmic and homoplasmic m.616T>C in mitochondria tRNAPhe promote isolated chronic kidney disease and hyperuricemia.JCI insight · 2022Article
- A case report of mitochondrial myopathy with membranous nephropathy.BMC nephrology · 2022Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial cytopathies constitute a group of rare diseases that are characterized by their frequent multisystemic involvement, extreme variability of phenotype and complex genetics. In children, renal involvement is frequent and probably underestimated. The most frequent renal symptom is a tubular defect that, in most severe forms, corresponds to a complete De Toni-Debré-Fanconi syndrome. Incomplete proximal tubular defects and other tubular diseases have also been reported. In rare cases, patients present with chronic tubulo-interstitial nephritis or cystic renal diseases. Finally, a group of patients develop primarily a glomerular disease. These patients correspond to sporadic case reports or can be classified into two major defects, namely 3243 A>G tRNA(LEU) mutations and coenzyme Q10 biosynthesis defects. The latter group is particularly important because it represents the only treatable renal mitochondrial defect. In this Educational Review, the principal characteristics of these diseases and the main diagnostic approaches 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.