{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["22(1)"],"submitter":["Zhang Y"],"pubmed_abstract":["<h4>Background</h4>AarF domain-containing kinase 4 (ADCK4)-associated glomerulopathy is a mitochondrial nephropathy caused by mutations in the ADCK4 gene, which disrupt coenzyme Q10 biosynthesis.<h4>Case presentation</h4>We report the case of a 25-year-old female patient with ADCK4-associated glomerulopathy presenting with proteinuria (and with no additional systemic symptoms). A known missense substitution c.737G > A (p.S246N) and a novel frameshift c.577-600del (p.193-200del) mutation were found. We followed the patient for 24 months during supplementation with coenzyme Q10 (20 mg/kg/d - 30 mg/kg/d) and describe the clinical course. In addition, we measured serum and urine coenzyme Q10 levels before and after coenzyme Q10 supplementation and compared them with those of healthy control su"],"journal":["BMC nephrology"],"pagination":["11"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7791994"],"repository":["biostudies-literature"],"pubmed_title":["Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report."],"pmcid":["PMC7791994"],"pubmed_authors":["Jiang Y","Tao L","Ao L","Zhang Y","Liao X","Lv X","Dai Q","Peng Z","Yu Y"],"additional_accession":[]},"is_claimable":false,"name":"Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report.","description":"<h4>Background</h4>AarF domain-containing kinase 4 (ADCK4)-associated glomerulopathy is a mitochondrial nephropathy caused by mutations in the ADCK4 gene, which disrupt coenzyme Q10 biosynthesis.<h4>Case presentation</h4>We report the case of a 25-year-old female patient with ADCK4-associated glomerulopathy presenting with proteinuria (and with no additional systemic symptoms). A known missense substitution c.737G > A (p.S246N) and a novel frameshift c.577-600del (p.193-200del) mutation were found. We followed the patient for 24 months during supplementation with coenzyme Q10 (20 mg/kg/d - 30 mg/kg/d) and describe the clinical course. In addition, we measured serum and urine coenzyme Q10 levels before and after coenzyme Q10 supplementation and compared them with those of healthy control su","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jan","modification":"2025-04-26T16:49:37.035Z","creation":"2021-02-20T20:46:10Z"},"accession":"S-EPMC7791994","cross_references":{"pubmed":["33413146"],"doi":["10.1186/s12882-020-02208-7"]}}