Adck4 Mutasyonu Saptanan Hastaların Uzun Dönem İzlem Sonuçları

Abstract

ADCK4-related glomerulopathy is an important novel differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. Current scientific data has shown that this is an insidious disease and patients may present with end stage kidney disease. In our previous study, children ages 10-18, whose DNAs have previously been sent to our laboratory from different nephrology centers in Turkey to elucidate the underlying genetic cause of proteinuria, nephrotic syndrome and chronic renal failure were screened for ADCK4 mutations. A total of 28 individuals with bi-allelic mutation from 11 families were identified. Due to insidious nature of the disease, we thought that there could be other individuals who do not have any symptom yet. Therefore we screened siblings of index cases for ADCK4 mutations. This screening yielded to identification of 8 apparently healthy individuals with the same bi-allelic mutation with the index case. We recommended the related physicians who follow-up these individuals to investigate for insidious proteinuria. Interestingly, all these patients had asymptomatic proteinuria. Thus, these individuals were diagnosed at an early stage without further deterioration of renal functions. In the light of the existing literature data, coenzyme Q10 therapy was started by the patient's own physician . Short term results of these patients were evaluated and a significant reduction in urinary protein excretion without any deterioration of kidney functions was noted after treatment with Coenzyme Q10. As proteinuria is a sign for renal damage, its reduction may be associated with long-term favorable outcome. In the present study, we aimed to evaluate these patients diagnosed during an asymptomatic period following exogenous CoQ10 administration over 2 years. In the study changes in clinical as well as laboratory parameters following CoQ10 administration were evaluated. In addition, the patients were monitored for extra-renal findings that could be related to the ADCK4 mutation. Despite small number of patient, our results indicate that early diagnosis and thereby early initiation of CoQ10 supplementation seems to be beneficial as these patients have shown significant reduction in proteinuria without any deteroiation in glomerular filtration rate after 25 months of observation period following CoQ10 administration.