ArticlePediatric nephrology (Berlin, Germany)2018
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2020Guideline
- Genetic insights into congenital and infantile nephrotic syndrome: predicting severity and informing care.Pediatric nephrology (Berlin, Germany) · 2026Article
- Case Report: Pediatric nephrology-expanding the genotypic spectrum ofFrontiers in medicine · 2026Article
- Prenatal Diagnosis ofKidney international reports · 2025Article
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.Human genetics · 2025Article
- PDSS1 mutations-associated steroid-resistant nephrotic syndrome: case report and review of literature.Pediatric nephrology (Berlin, Germany) · 2025Review
- Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.Kidney international reports · 2024Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview.Antioxidants (Basel, Switzerland) · 2024Review
- Focus on Mitochondrial Respiratory Chain: Potential Therapeutic Target for Chronic Renal Failure.International journal of molecular sciences · 2024Review
- Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023Review
- Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.Clinical medicine insights. Case reports · 2023Article
- Whole-exome sequencing of a multicenter cohort identifies genetic changes associated with clinical phenotypes in pediatric nephrotic syndrome.Genes & diseases · 2022Article
- Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.NPJ genomic medicine · 2022Article
- Collapsing Glomerulopathy: A Review by the Collapsing Brazilian Consortium.Frontiers in medicine · 2022Review
- Article
- Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Review
- Myeloid bodies caused byClinical kidney journal · 2021Article
- Mitochondrial DNA mutations in renal disease: an overview.Pediatric nephrology (Berlin, Germany) · 2021Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundNephrotic syndrome can be caused by a subgroup of mitochondrial diseases classified as primary coenzyme Q CASE-DIAGNOSIS/TREATMENT: We report three pediatric patients with COQ2 variants presenting with nephrotic syndrome. Two of these patients had normal leukocyte CoQ
conclusionsCOQ2 nephropathy should be suspected in patients presenting with nephrotic syndrome, although less common than disease due to mutations in NPHS1, NPHS2, and WT1. The index of suspicion should remain high, and we suggest that providers consider genetic evaluation even in patients with normal leukocyte CoQ
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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.