20.500.12556/DiRROS-24232 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 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdotally with oral CoQ(10) 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 CoQ(10) supplements for primary CoQ(10) 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. CoQ(10) 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. CoQ(10) 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 CoQ(10) deficiency should receive early and life-long CoQ(10) supplementation to decelerate the progression of kidney disease and prevent further damage to other organs. coenzyme Q10 deficiency supplementation therapy end-stage kidney disease ESKD genetic kidney disease hereditary kidney survival outcome proteinuria reduction true false true Angleški jezik Ni določen Neznano 2025-11-21 13:57:06 2025-11-21 13:57:07 2025-11-22 03:57:13 0000-00-00 00:00:00 2022 0 0 Nasl. z nasl. zaslona; Opis vira z dne 25. 7. 2025; str. 604-612 issue 3 Vol. 102 2022 0000-00-00 Zaloznikova Objavljeno apc 0000-00-00 0000-00-00 0000-00-00 616.6 1523-1755 10.1016/j.kint.2022.04.029 243803395 RAZ_Drovandi_Stefania_2022.pdf RAZ_Drovandi_Stefania_2022.pdf 1 2DC2816E680A73B27BFCCD3850717D47 560b08b95515ba272143cd7f75bc5ebeb4fc0cc3c89dfb9b474f2a842f65433c b79d78d4-c6d9-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36087 https://www.kidney-international.org/article/S0085-2538(22)00379-9/fulltext 0 c2ee58ff-c6d9-11f0-94a7-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=36088 Univerzitetni klinični center Ljubljana 0 0 0