Table 1.
Renal, extra‐renal involvement and response after treatment in primary coenzyme Q10 deficiency in literature
| Gene | Cases (family) | Clinical symptoms | Renal histology | Outcome after or without CoQ10 treatment | Ref |
|---|---|---|---|---|---|
| PDSS2 | 3 (1) | NS, encephalopathy, optic atrophy, sensorineural deafness, hypertrophic cardiomyopathy | ND |
2 patients treated with neurological and ophthalmic improvement 1 patient died without treatment at 8 months |
15 |
| PDSS2 | 1 (1) | NS, seizures, hypotonia | ND | Treated, died at 8 months | 13 |
| COQ2 | 2 (1) |
Isolated SRNS for the sister SRNS, mild psychomotor delay, optic atrophy for the brother |
FSGS | 2 patients treated with recovery of renal function, decreased of proteinuria for the sister; neurological improvement but renal transplant at 3 years for the brother | 8‐9 |
| COQ2 | 2 (2) |
Isolated SRNS for the first patient NS, encephalopathy, respiratory failure for the second |
Collapsing glomerulopathy |
First patient was treated and remained stable Second patient died without treatment at 6 months |
11 |
| COQ2 | 2 (1) | NS, liver failure, seizures, pancytopenia, insulin‐dependent diabetes | ND | Died at 1 and 12 days without treatment | 10 |
| COQ2 | 2 (1) | Respiratory failure seizures, hypotonia | ND | Died at 5 and 6 months without treatment | 16 |
| COQ2 | 4 (2) | Multiple‐system atrophy, retinitis Pigmentosa | ND | 2 patients alive without treatment, 2 patients died without treatment | 17 |
| COQ2 | 1 (1) | NS, Myoclonic epilepsy, hypertrophic cardiomyopathy | FSGS | Treated, died at 5 months | 12 |
| COQ2 | 1(1) | Hypertrophic cardiomyopathy, encephalopathy, respiratory failure | ND | Died at 2 months without treatment | 18 |
| COQ9 | 1 (1) | Renal tubulopathy, cardiomyopathy, neurological impairment | ND | Treated, died at 2 years | 5 |
| ADCK4 | 15 (8) | SRNS, developmental delay for one patient | FSGS | 1 patient treated with decreased of proteinuria | 14 |
| COQ6 | 11 (5) | SRNS, sensorineural deafness, neurological impairment | FSGS, DMS | 3 patients treated with decreased of proteinuria or deafness improvement | 2 |
| COQ6 | 2 (1) | SRNS, sensorineural deafness and optic atrophy for one patient | FSGS | Both treated, ophthalmic improvement | Our Case reports |
ADCK4, aarF domain containing kinase 4; COQ2, coenzyme Q2 4‐hydroxybenzoate polyprenyltransferase; COQ9, Ubiquinone bisynthesis protein coenzyme Q9; COQ6, coenzyme Q 10 biosynthesis monooxygenase 6; DMS, diffuse mesangial sclerosis; FSGS, focal segmental glomerulosclerosis; ND, no data available; NS, néphrotic syndrome; PDSS2, prenyl (decaprenyl) diphosphate synthase subunit 2; Ref, references; SRNS, steroid resistant nephrotic syndrome.