ESPN 51th Annual Meeting

ESPN 2018


 
Long-term follow-up results of patients with ADCK4 mutations who have been diagnosed in asymptomatic period: effects of early initiation of CoQ10 supplementation
MUSTAFA ATMACA 1 BORA GÜLHAN 2 AYSUN KARABAY BAYAZIT 3 CENGIZ CANDAN 4 MUSTAFA ARICI 5 REZAN TOPALOGLU 2 FATIH ÖZALTIN 2

1- HACETTEPE UNIVERSITY DEPARTMENT OF PEDIATRICS
2- HACETTEPE UNIVERSITY FACULTY OF MEDICINE, DIVISION OF PEDIATRIC NEPHROLOGY
3- ÇUKUROVA UNIVERSITY FACULTY OF MEDICINE, DIVISION OF PEDIATRIC NEPHROLOGY
4- ISTANBUL MEDENIYET UNIVERSITY FACULTY OF MEDICINE, DIVISION OF PEDIATRIC NEPHROLOGY
5- HACETTEPE UNIVERSITY FACULTY OF MEDICINE, DIVISION OF NEPHROLOGY
 
Introduction:

ADCK4-related glomerulopathy is recently recognized clinical entity associated with insidious onset in young children and a high potential to progress to chronic kidney disease in adolescents. Early initiation of exogenous CoQ10 supplementation in asymptomatic period could be protective on renal functions. In the present study, we aimed to investigate long-term follow-up of patients that we have diagnosed in an asymptomatic period and effects of early CoQ10 initiation in these patients.  

Material and methods:

We have recently introduced 8 apparently healthy individuals with bi-allelic ADCK4 mutation in whom CoQ10 treatment was initiated in asymptomatic period. We analyzed long-term effects of coenzyme Q10 (CoQ10) on proteinuria and GFR in this patient population.

Results:

A total of 8 patients (4 female, 4 male) from 6 different families were included. The mean age at diagnosis and at last visit were 16.8±11.2 years and 20.7±11.7 years of age, respectively. None of the patients had extrarenal system involvement. At the time of initiation of CoQ10; median eGFR was 140 ml/min/1.73 m2, median proteinuria was 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 eGFR remained stable at 123 ml/min/1.73 m2 (p = 0.41).

Conclusions:

Coenzyme Q10 treatment is effective for reducing proteinuria and seems to be renoprotective in patients with ADCK4-related nephropathy.