Table 2.

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

ParameterPatient
1234
ReferenceThis reportThis reportRefs. 8,9,22, this reportRefs. 8,9,22, this report
Family history
    ConsanguinityNoYesYesYes
    Other siblings1 healthy brother1 healthy sister, 1 dead sister (at 2 d of life)Patient 4Patient 3
GenderMaleMaleMaleFemale
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.