Article
Urinary coenzyme Q10 as a diagnostic biomarker and predictor of remission in a patient with ADCK4-associated Glomerulopathy: a case report.
BMC nephrology - 7 Jan 2021
Zhang Yan, Liao Xiaohua, Jiang Yupeng, Lv Xin, Yu Yue, Dai Qin, Ao Liyun, Tao Lijian, Peng Zhangzhe
Abstract excerpt
BACKGROUND: AarF domain-containing kinase 4 (ADCK4)-associated glomerulopathy is a mitochondrial nephropathy caused by mutations in the ADCK4 gene, which disrupt coenzyme Q10 biosynthesis. CASE PRESENTATION: 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...
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