Article
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
Kidney international - 1 Sept 2022
Drovandi Stefania, Lipska-Ziętkiewicz Beata S, Ozaltin Fatih, Emma Francesco, Gulhan Bora, Boyer Olivia, Trautmann Agnes, Ziętkiewicz Szymon, Xu Hong, Shen Qian, Rao Jia, Riedhammer Korbinian M, Heemann Uwe, Hoefele Julia, Stenton Sarah L, Tsygin Alexey N, Ng Kar-Hui, Fomina Svitlana, Benetti Elisa, Aurelle Manon, Prikhodina Larisa, Schijvens Anne M, Tabatabaeifar Mansoureh, Jankowski Maciej, Baiko Sergey, Mao Jianhua, Feng Chunyue, Deng Fang, Rousset-Rouviere Caroline, Stańczyk Małgorzata, Bałasz-Chmielewska Irena, Fila Marc, Durkan Anne M, Levart Tanja Kersnik, Dursun Ismail, Esfandiar Nasrin, Haas Dorothea, Bjerre Anna, Anarat Ali, Benz Marcus R, Talebi Saeed, Hooman Nakysa, Ariceta Gema, Schaefer Franz
Abstract excerpt
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and CCGKDD registries queries and an online survey, collecting comprehensive clinical and genetic data of 251 patients...
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