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CoenzymeQ10 therapy in two sisters with CoQ6 mutations with long-term follow-up

  • Mustafa KoyunEmail author
  • Elif Çomak
  • Sema Akman
Letter to the Editor

Sir,

We read with great interest the paper by Stanczyk et al. titled “CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy—a case report” in the December 2018 issue of Pediatric Nephrology [1]. One of the cases which is mentioned in this paper (4th patient in the table) was followed by us. It was found that she had asymptomatic proteinuria (2+) at the age of 2.5 years at another center when investigated as her older sister had nephrotic syndrome (NS). Kidney biopsy was compatible with focal segmental glomerulosclerosis (FSGS). Oral methylprednisolone therapy was initiated, but she did not tolerate it. She presented to our department at 3 years of age. She was asymptomatic and physical exam was unremarkable, apart from sensorineural deafness. There was consanguineous marriage between the parents. She had 3 g/day of (330 mg/m2/h) proteinuria. Serum creatinine was 0.5 mg/dL and albumin 3.7 g/dL. As no response was seen to 6 weeks of therapy with...

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Stańczyk M, Bałasz-Chmielewska I, Lipska-Ziętkiewicz B, Tkaczyk M (2018) CoQ10-related sustained remission of proteinuria in a child with COQ6 glomerulopathy-a case report. Pediatr Nephrol 33:2383–2387CrossRefGoogle Scholar
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    Heeringa SF, Chernin G, Chaki M, Zhou W, Sloan AJ, Ji Z, Xie LX, Salviati L, Hurd TW, Vega-Warner V, Killen PD, Raphael Y, Ashraf S, Ovunc B, Schoeb DS, McLaughlin HM, Airik R, Vlangos CN, Gbadegesin R, Hinkes B, Saisawat P, Trevisson E, Doimo M, Casarin A, Pertegato V, Giorgi G, Prokisch H, Rötig A, Nürnberg G, Becker C, Wang S, Ozaltin F, Topaloglu R, Bakkaloglu A, Bakkaloglu SA, Müller D, Beissert A, Mir S, Berdeli A, Varpizen S, Zenker M, Matejas V, Santos-Ocaña C, Navas P, Kusakabe T, Kispert A, Akman S, Soliman NA, Krick S, Mundel P, Reiser J, Nürnberg P, Clarke CF, Wiggins RC, Faul C, Hildebrandt F (2011) COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest 121:2013–2024CrossRefGoogle Scholar

Copyright information

© IPNA 2018

Authors and Affiliations

  1. 1.School of Medicine, Department of Pediatrics, Division of Pediatric NephrologyAkdeniz UniversityAntalyaTurkey

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