Table 1 Clinical, pathological, biochemical, and genetic features of reported patients
Parameter | Patient | |||||
|---|---|---|---|---|---|---|
1 | 2 | 3 | 4 | 5 | 6 | |
Reference | This report | Refs [9]. | Refs [9]. | Refs [9]. | Refs [9]. | Refs [7]. |
Family history | ||||||
Consanguinity | Yes | No | Yes | Yes | Yes | No |
Other siblings | 1 healthy sister, 1 dead sister (died at 11 years old),1 dead sister (died at 8 mons old) | 1 healthy brother | 1 healthy sister, 1 dead sister (at 2 d of life) | Patient 5 | Patient 4 | No |
Gender | Female | Male | Male | Male | Female | Female |
Renal involvement | ||||||
Renal symptoms | SRNS/AFR | SRNS | ARF | SRNS | NS | SRNS |
Age of onset | 6 mo | 18 mo | Birth | 11 mo | 12 mo | 18 mo |
Renal pathology | Extensive fusion of epithelial pedocytes, degeneration of podocyte vacuoles, tubular-interstitial lesion | Collapsing GN | Crescentic GN | FSGS | FSGS | Not mentioned |
Treatment | Meprednisone | ACEI indomethacin(18 mo) CoQ10 (21 mo) | Prednisone | Prednisone | Prednisone | COQ10 |
Out come | Death(6 mo) | ESRD(20 mo) | Death(6 mo) | ESRD(18 mo) | Normal renal function | ESRD(30 mo) |
Extrarenal involvement | None | None | Epileptic encephalopathy, hypotonia | Epilepti c encephalopathy, optic nerve atrophy | None | None |
COQ2 mutations | Homozygous c.832 T > C (p.cys278Arg) | Combined heterozygous c.590G > A (p.Arg197His) c.683A > G (p.Asn228Ser) | Homozygous c.437G > A (p.Ser146Asn) | Homozygous c.890A > G (p.Tyr297Cys) | Homozygous c.890A > G (p.Tyr297Cys) | Compound heterozygousc.683A > G (p.Asn228Ser) c.701delT |