Article
Glomerular basement membrane ultrastructural changes in a patient with COQ2 glomerulopathy: A case report.
Nephrology (Carlton, Vic.) - 1 Sept 2024
Sun Liuyu, Ren Yali, Su Baige, Wang Suxia, Zhong Xuhui, Jiang Yuwu, Wang Fang
Abstract excerpt
Primary coenzyme Q10 deficiency-1, caused by COQ2 disease-causing variants, is an autosomal recessive disorder, and genetic testing is the gold standard for diagnosing this condition. A Chinese boy with steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis, and progressive kidney insufficiency was included in the study. Electron microscopy revealed the glomerular basement membrane with...
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