COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss

Eujin Park, Yo Han Ahn, Hee Gyung Kang, Kee Hwan Yoo, Nam Hee Won, Kyoung Bun Lee, Kyung Chul Moon, Moon Woo Seong, Tae rin Gwon, Sung Sup Park, Hae Il Cheong

    Research output: Contribution to journalArticlepeer-review

    42 Citations (Scopus)


    The phenotypic combination of steroid-resistant focal segmental glomerulosclerosis (SR-FSGS) and sensorineural hearing loss has been mainly reported in patients with mitochondrial cytopathies, including primary coenzyme Q10 (CoQ10) deficiency. In this report of 10 children with SR-FSGS and sensorineural hearing loss, we found 6 patients with biallelic COQ6 mutations. Median age at the onset of nephrotic syndrome was 29 (range, 15-47) months. All patients progressed to end-stage renal disease within a median of 13 (range, 1-27) months after the onset. Kidney biopsy revealed abnormal mitochondrial proliferation in podocytes in all 6 patients. None of the 5 patients who underwent kidney transplantation developed recurrence of FSGS. Primary CoQ10 deficiency due to COQ6 mutations should be considered in children presenting with both SR-FSGS and sensorineural hearing loss. An early diagnosis of COQ6 mutations is essential because the condition is treatable when CoQ10 supplementation is started at the early stage. We recommend early kidney biopsy because detection of abnormal mitochondrial proliferation in podocytes might provide an earlier diagnostic clue.

    Original languageEnglish
    Pages (from-to)139-144
    Number of pages6
    JournalAmerican Journal of Kidney Diseases
    Issue number1
    Publication statusPublished - 2017 Jul

    Bibliographical note

    Publisher Copyright:
    © 2017 National Kidney Foundation, Inc.


    • COQ6 mutation
    • Steroid-resistant focal segmental glomerulosclerosis (SR-FSGS)
    • case report
    • children
    • coenzyme Q10 deficiency
    • end-stage renal disease (ESRD)
    • kidney biopsy
    • mitochondrial cytopathy
    • mitochondrial proliferation in podocytes
    • pediatric
    • sensorineural hearing loss

    ASJC Scopus subject areas

    • Nephrology


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