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

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....

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Main Authors: Drovandi, Stefania (Author) , Lipska-Ziętkiewicz, Beata S. (Author) , Ozaltin, Fatih (Author) , Emma, Francesco (Author) , Gulhan, Bora (Author) , Boyer, Olivia (Author) , Trautmann, Agnes (Author) , Xu, Hong (Author) , Shen, Qian (Author) , Rao, Jia (Author) , Riedhammer, Korbinian M. (Author) , Heemann, Uwe (Author) , Hoefele, Julia (Author) , Stenton, Sarah L. (Author) , Tsygin, Alexey N. (Author) , Ng, Kar-Hui (Author) , Fomina, Svitlana (Author) , Benetti, Elisa (Author) , Aurelle, Manon (Author) , Prikhodina, Larisa (Author) , Schreuder, Michiel F. (Author) , Tabatabaeifar, Mansoureh (Author) , Jankowski, Maciej (Author) , Baiko, Sergey (Author) , Mao, Jianhua (Author) , Feng, Chunyue (Author) , Liu, Cuihua (Author) , Sun, Shuzhen (Author) , Deng, Fang (Author) , Wang, Xiaowen (Author) , Clavé, Stéphanie (Author) , Stańczyk, Małgorzata (Author) , Bałasz-Chmielewska, Irena (Author) , Fila, Marc (Author) , Durkan, Anne M. (Author) , Levart, Tanja Kersnik (Author) , Dursun, Ismail (Author) , Esfandiar, Nasrin (Author) , Haas, Dorothea (Author) , Bjerre, Anna (Author) , Anarat, Ali (Author) , Benz, Marcus R. (Author) , Talebi, Saeed (Author) , Hooman, Nakysa (Author) , Ariceta, Gema (Author) , Serna Higuita, Lina Maria (Author) , Schaefer, Franz (Author) , Gheissari, Alaleh (Author) , Nigmatullina, Nazym (Author) , Tkaczyk, Marcin (Author) , Borzecka, Halina (Author) , Bogdanovic, Radovan (Author) , Mir, Sevgi (Author) , Klopstock, Thomas (Author) , Prokisch, Holger (Author) , Kornblum, Cornelia (Author) , Liu, Cui-Hua (Author) , Sun, Shu-Zhen (Author) , Dong, Yang (Author) , Wang, Xiao-Wen (Author) , Luan, Jiang-Wei (Author)
Format: Article (Journal)
Language:English
Published: 25 May 2022
In: Kidney international
Year: 2022, Volume: 102, Issue: 3, Pages: 604-612
ISSN:1523-1755
DOI:10.1016/j.kint.2022.04.029
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.kint.2022.04.029
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S0085253822003799
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Author Notes:Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, and Franz Schaefer

MARC

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245 0 0 |a Oral coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency  |c Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, and Franz Schaefer 
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500 |a MitoNET Consortium: Thomas Klopstock, Holger Prokisch, Cornelia Kornblum 
500 |a CCGKDD Consortium: Hong Xu, Qian Shen, Jia Rao, Cui-Hua Liu, Shu-Zhen Sun, Fang Deng, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan 
520 |a 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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650 4 |a coenzyme Q deficiency 
650 4 |a CoQ 
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650 4 |a end-stage kidney disease 
650 4 |a ESKD 
650 4 |a genetic kidney disease 
650 4 |a hereditary 
650 4 |a kidney survival 
650 4 |a outcome 
650 4 |a proteinuria reduction 
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