Nucleotide mutation | Exon | Amino acid change | Age at onset | Kidney disease | Origin | Histology | Renal ultrasound | CoQ10 start | Treatment/CoQ10 dose (duration) | Response | Extrarenal findings | Reference |
---|---|---|---|---|---|---|---|---|---|---|---|---|
c.1199-1200insA | 13(hom) | p.H400Nfs∗11 | < 1 yr | NS | Turkey | FSGS | NDA | 1 yr | CoQ10: 15 mg/kg/d; prednisolone, ACE-I, cyclophosphamide | Proteinuria partial remission | Neurological development delay | [4] |
c.293 T > G | NDA | p.L98R | 27 yr | Proteinuria | Turkey | FSGS | NDA | 27 yr | CoQ10: 10 mg/kg/d | Proteinuria partial remission | None | [5] |
c.1339dupG | NDA | p.E447Gfs∗10 | 9 yr | Albuminuria | Turkey | FSGS | NDA | 9 yr | CoQ10: 30 mg/kg/d | Proteinuria partial remission | None | [5] |
c.748G > C c.532C > T | 9(hom) 7(hom) | p.D250H p.R178W | 9 mo | Proteinuria | China | NDA | Normal | 9 mo | CoQ10:15–30 mg/kg/d (12mo) | Proteinuria full remission | Mental developmental retardation | [6] |
c.614C > T | 8(hom) | p.S205N | 11 yr | NS | China | FSGS | Echo enhancement | 11 yr | CoQ10:15–30 mg/kg/d (12mo) | Progress to CKD | None | [6] |
c.625C > G | NDA | p.D209H | 14 yr | Proteinuria | China | FSGS | Increased medullary echogenicity | 14 yr | CoQ10:150 mg/d (3mo) | uPCR:1.54 g/g to 0.95 g/g | None | [7] |