Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in the asymptomatic period: effects of early initiation of CoQ10 supplementation

Özet

ADCK4-related glomerulopathy is a recently recognized clinical entityassociated with insidious onset in young children and a high potentialto progress to chronic kidney disease in adolescents. Early initiation ofexogenous coenzyme Q10 (CoQ10) supplementation in the asymptomaticperiod could be protective on renal functions. In the present study, we aimed toinvestigate long-term follow-up of patients that we have diagnosed during theasymptomatic period and in whom we started CoQ10 treatment. We analyzedlong-term effects of CoQ10 on proteinuria and estimated glomerular filtrationrate (eGFR) in this patient population. A total of 8 patients (4 female, 4 male)from 6 different families were included. The mean age at diagnosis and atlast visit were 16.8±11.2 years and 20.7±11.7 years, respectively. None ofthe patients had extrarenal system involvement. At the time of initiationof treatment; median eGFR was 107.8 ml/min/1.73 m2, median proteinuriawas 1008 mg/m2/day. After a median follow-up period of 25.3±5.8 months,median proteinuria decreased to 318.5 mg/m2/day (p=0.03) and median eGFRremained stable at 99.6 ml/min/1.73 m2 (p=0.21). Coenzyme Q10 treatmentis effective for reducing proteinuria and seems to be renoprotective.