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Drovandi, S.* ; Lipska-Ziętkiewicz, B.S.* ; Ozaltin, F.* ; Emma, F.* ; Gulhan, B.* ; Boyer, O.* ; Trautmann, A.* ; Xu, H.* ; Shen, Q.* ; Rao, J.* ; Riedhammer, K.M.* ; Heemann, U.* ; Hoefele, J.* ; Stenton, S. ; Tsygin, A.N.* ; Ng, K.H.* ; Fomina, S.* ; Benetti, E.* ; Aurelle, M.* ; Prikhodina, L.* ; Schreuder, M.F.* ; Tabatabaeifar, M.* ; Jankowski, M.* ; Baiko, S.* ; Mao, J.* ; Feng, C.* ; Liu, C.* ; Sun, S.* ; Deng, F.* ; Wang, X.* ; Clavé, S.* ; Stańczyk, M.* ; Bałasz-Chmielewska, I.* ; Fila, M.* ; Durkan, A.M.* ; Levart, T.K.* ; Dursun, I.* ; Esfandiar, N.* ; Haas, D.* ; Bjerre, A.* ; Anarat, A.* ; Benz, M.R.* ; Talebi, S.* ; Hooman, N.* ; Ariceta, G.* ; Schaefer, F.*

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.

Kidney Int. 102, 604-612 (2022)
Verlagsversion DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Primary Coenzyme Q10 (CoQ10) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ10 biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdotally with oral CoQ10 supplementation. However, the long-term efficacy and optimal prescription remain to be established. In a global effort, we collected and analyzed information from 116 patients who received CoQ10 supplements for primary CoQ10 deficiency due to biallelic pathogenic variants in either the COQ2, COQ6 or COQ8B genes. Median duration of follow up on treatment was two years. The effect of treatment on proteinuria was assessed, and kidney survival was analyzed in 41 patients younger than 18 years with chronic kidney disease stage 1-4 at the start of treatment compared with that of an untreated cohort matched by genotype, age, kidney function, and proteinuria. CoQ10 supplementation was associated with a substantial and significant sustained reduction of proteinuria by 88% at 12 months. Complete remission of proteinuria was more frequently observed in COQ6 disease. CoQ10 supplementation led to significantly better preservation of kidney function (5-year kidney failure-free survival 62% vs. 19%) with an improvement in general condition and neurological manifestations. Side effects of treatment were uncommon and mild. Thus, our findings indicate that all patients diagnosed with primary CoQ10 deficiency should receive early and life-long CoQ10 supplementation to decelerate the progression of kidney disease and prevent further damage to other organs.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Coq2 ; Coq6 ; Coq8b ; Coq(10) Supplementation Therapy ; Eskd ; Coenzyme Q(10) Deficiency ; Genetic Kidney Disease ; Hereditary ; Kidney Survival ; Outcome ; Proteinuria Reduction
ISSN (print) / ISBN 0085-2538
e-ISSN 1523-1755
Zeitschrift Kidney International
Quellenangaben Band: 102, Heft: 3, Seiten: 604-612 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)