Table 2.

Clinical, pathological, biochemical, and genetic features of reported patientsa

ReferenceThis reportThis reportRefs. 8,9,22, this reportRefs. 8,9,22, this report
Family history
    Other siblings1 healthy brother1 healthy sister, 1 dead sister (at 2 d of life)Patient 4Patient 3
Renal involvement
    renal symptomsSRNSARFSRNSNS
    Age of onset18 moBirth11 mo12 mo
    Renal pathologyCollapsing GNCrescentic GNFSGSFSGS
    Mitochondria abnormalities by EMYesYesYesYes
    Histochemistry (SDH/COX)DecreasedDecreasedN/AN/A
    OutcomeESRF (20 mo)Death (6 mo)ESRF (18 mo)Normal renal function
Extrarenal involvementNoneEpileptic encephalopathy, hypotoniaEpileptic encephalopathy, optic nerve atrophyNone
Biochemistry data
    CoQ10 levelsDecreased (kidney + muscle)Decreased (kidney + muscle)Decreased (muscle + fibroblasts)Decreased (fibroblasts)
    Mitochondrial complex activityDecreased [II+III] (kidney + muscle)Decreased [II+III] (kidney + muscle)Decreased [II+III] (fibroblasts) decreased [I+III] (muscle)Decreased [II+III] (fibroblasts)
    COQ2 mutationsp.Arg197His p.Asn228Serp.Ser146Asnp.Tyr297Cysp.Tyr297Cys
  • a ARF, acute renal failure; ESRF, end-stage renal failure; GN, glomerulonephritis; NS, nephrotic syndrome; SRNS, steroid-resistant nephrotic syndrome.