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 journalArticle

18 Citations (Scopus)

Abstract

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
Volume70
Issue number1
DOIs
Publication statusPublished - 2017 Jul 1

Keywords

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

ASJC Scopus subject areas

  • Nephrology

Fingerprint Dive into the research topics of 'COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss'. Together they form a unique fingerprint.

  • Cite this

    Park, E., Ahn, Y. H., Kang, H. G., Yoo, K. H., Won, N. H., Lee, K. B., Moon, K. C., Seong, M. W., Gwon, T. R., Park, S. S., & Cheong, H. I. (2017). COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss. American Journal of Kidney Diseases, 70(1), 139-144. https://doi.org/10.1053/j.ajkd.2016.10.040