COQ8B mutation and SRNS

[Cbu523]

My five-year-old son has steroid resistant nephrotic syndrome and his genetic test just came back to show a mutation in COQ8B. Our genetic counselor said there is no link between that gene mutation and his nephrotic syndrome, but we have found research that says otherwise. Does anyone have experience with this?

[Hidden]

At this point it seems they don't know enough about this finding to say that the the gene mutation causes kidney problems. More research has to be done and that is probably why your doctor told you that.

It may be incidental to the gene mutation.

[Cbu523]

I understand. And we also are aware that the nascent field of genetics is shifting our understanding everyday. I only ask because the NIH research found that in these cases a coenzyme Q10 supplement has been found to help patients reach remission so I was wondering if anyone has had experience with using these supplements or a link between primary coenzyme Q10 deficiency and nephrotic syndrome?

[kidneydoctor in reply to Cbu523]

Mutations in COQ8B (=ADCK4) lead to nephrotic syndrome. Proteinuria in these patients is clearly responsive to oral COQ10 supplementation - you may check this publication from Turkey where COQ8B mutations are common: ncbi.nlm.nih.gov/pubmed/283...

Since COQ10 supplements have no side effects and are not very expensive, you could give it a try.