ArticlePediatric nephrology (Berlin, Germany)2017
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations.
Article in Pediatric nephrology (Berlin, Germany), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 36 citations in OpenAlex.
- Precision medicine for focal segmental glomerulosclerosis.Kidney research and clinical practice · 2024Article
- Clinical follow-up of 2 families with glomerulopathy caused byFrontiers in pediatrics · 2024Article
- Clinical features and gene variation analysis of COQ8B nephropathy: Report of seven cases.Frontiers in pediatrics · 2022Article
- COQ8B glomerular nephropathy: Outcomes after kidney transplantation and analysis of characteristics in Chinese population.Frontiers in pediatrics · 2022Article
- Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Review
- Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.Scientific reports · 2021Article
- Current understandings in treating children with steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2021Review
- Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report.BMC nephrology · 2021Article
- Mitochondrial Disease and the Kidney With a Special Focus on CoQKidney international reports · 2020Review
- Transcription factor Kruppel-like factor 5 positively regulates the expression of AarF domain containing kinase 4.Molecular biology reports · 2020Article
- Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review.BMC nephrology · 2020Review
- A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes.BMC nephrology · 2020Article
- Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis.Journal of clinical medicine · 2020Article
- ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment.Journal of the American Society of Nephrology : JASN · 2020Article
- Genetic tests in children with steroid-resistant nephrotic syndrome.Kidney research and clinical practice · 2020Review
- Deletion of the Mitochondrial Complex-IV Cofactor Heme A:Farnesyltransferase Causes Focal Segmental Glomerulosclerosis and Interferon Response.The American journal of pathology · 2018Article
- Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.Clinical and experimental nephrology · 2018Review
- The Role of Glucocorticoid Receptors in Podocytes and Nephrotic Syndrome.Nuclear receptor research · 2018Article
- Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.Scientific reports · 2017Article
- Review
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the AarF domain containing kinase 4 gene (ADCK4), one of the novel genes causing steroid-resistant nephrotic syndrome (SRNS), usually manifest as isolated adolescent-onset focal segmental glomerulosclerosis (FSGS). ADCK4 interacts with components of the coenzyme Q10 (CoQ10) biosynthesis pathway.
methodsThe incidence and phenotypes of patients with ADCK4 mutations were investigated in a cohort of Korean pediatric patients with SRNS.
resultsAmong the 53 patients enrolled in the study the incidence of ADCK4-associated FSGS was 7.5% (n = 4) in children aged 5 years and older with multidrug-resistant FSGS. Two additional patients were included for phenotype analyses, one detected by family screening and the other with cyclosporine-responsive FSGS. These six patients presented proteinuria without overt nephrotic syndrome at a median age of 110 (range 60-153) months, of whom five progressed to end-stage renal disease within a median period of 46 (range 36-79) months after onset. Renal biopsies revealed mitochondrial abnormalities in podocytes and tubular cells of all patients. Notably, all patients showed accompanying medullary nephrocalcinosis. None of the patients showed other extrarenal manifestations.
conclusionsADCK4 mutations should be considered in older children presenting with steroid resistant FSGS. An early diagnosis of ADCK4 mutations is essential because the condition is treatable with CoQ10 supplementation at an early stage. The association with medullary nephrocalcinosis may be an additional diagnostic indicator.
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