COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement
F Diomedi-Camassei, S Di Giandomenico… - Journal of the …, 2007 - journals.lww.com
Abstract Primary coenzyme Q 10 (CoQ 10) deficiency includes a group of rare autosomal
recessive disorders primarily characterized by neurological and muscular symptoms. Rarely,
glomerular involvement has been reported. The COQ2 gene encodes the para-
hydroxybenzoate-polyprenyl-transferase enzyme of the CoQ 10 synthesis pathway. We
identified two patients with early-onset glomerular lesions that harbored mutations in the
COQ2 gene. The first patient presented with steroid-resistant nephrotic syndrome at the age …
recessive disorders primarily characterized by neurological and muscular symptoms. Rarely,
glomerular involvement has been reported. The COQ2 gene encodes the para-
hydroxybenzoate-polyprenyl-transferase enzyme of the CoQ 10 synthesis pathway. We
identified two patients with early-onset glomerular lesions that harbored mutations in the
COQ2 gene. The first patient presented with steroid-resistant nephrotic syndrome at the age …