Table 1.

Patients with COQ6 mutations treated with CoQ10 reported to date

Nucleotide mutation	Exon (segregation)	Protein change	Age at onset	Kidney disease	Origin	Histology	CoQ10 start	Treatment/CoQ10 dose	Response	Extrarenal findings	Reference
c.763G > A	7 (hom)	p. Gly255Arg	3 mo	SRNS	Turkey	NDA	NDA	CoQ10: 100 mg/d	–SND improvement –ESRD (4 mo)	SND facial dysmorphism	[4]
c.763G > A	7 (hom)	p. Gly255Arg	2 mo	proteinuria	Turkey	NDA	2 mo	CoQ10: 15 mg/kg/d → 30 mg/kg/d after 2 months of treatment ACE-I: 1.25 mg/d	–uPCR: 40 mg/mg → 8 mg/mg (after 2 mo) → 5.8 mg/mg → 4.8 mg/mg (15 mo) → 0.55 mg/mg (4.5 y.) –Normal renal function	Asymptomatic at the onset SND (10 mo) Bilateral nephrolithiasis (5 mo) GR (10 mo)	[4]
c.782C > T	7 (hom)	p.Pro261Leu	8 mo	SRNS	Italy	MPGN	NDA	CoQ10 – to prevent neurological symptoms; dose – NDA	–ESRD at 20 mo –Lack of neurological symptoms	None	[5]
c.1058C > A	9 (hom)	p.Ala353Asp	2.5 yr	SRNS	Turkey	FSGS	5.5 y	CoQ10 –dose: NDA CsA – dose:NDA	24 h protein in urine: 7 mg/m2/h → 3.7 mg/m2/h (after 2 mo) → full remission –No hearing improvement –Relapse of proteinuria 57 mg/m2/h after cessation of CoQ10	SND	[4, 6]
c.1078C > T	9 (hom)	p. Arg360Trp	10 mo	nephrotic proteinuria	China	NDA	NDA	CoQ10 – dose: 30 mg/kg	–uPCR 7.2 mg/mg → 1.3 mg/mg (after 2 mo) → 0.01 mg/mg (after 3 mo) –Improvement of growth retardation–SND (2 yr)	Cardiovascular abnormality Motor and mental retardation Unilateral ptosis	[7]

SRNS steroid resistant nephrotic syndrome, FSGS focal segmental glomerulosclerosis, MPGN membranoproliferative glomerulonephrirts, CoQ10 coenzyme Q10, ACE-I angiotensin-converting-enzyme inhibitors, CsA cyclosporine A, SND sensorineural deafness, ESRD end-stage renal disease, uPCR urine protein-creatine ratio, GR growth retardation, NDA no data available, hom homozygous in affected individual