Glomerular basement membrane ultrastructural changes in a patient with COQ2 glomerulopathy: A case report.

Autor: Sun L; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China., Ren Y; Department of Electron Microscopy, Peking University First Hospital, Beijing, People's Republic of China., Su B; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China., Wang S; Department of Electron Microscopy, Peking University First Hospital, Beijing, People's Republic of China., Zhong X; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China., Jiang Y; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China., Wang F; Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China.
Jazyk: angličtina
Zdroj: Nephrology (Carlton, Vic.) [Nephrology (Carlton)] 2024 Sep; Vol. 29 (9), pp. 612-616. Date of Electronic Publication: 2024 Jun 04.
DOI: 10.1111/nep.14329
Abstrakt: 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 irregular thickness and lamellation with diffuse effacement of foot processes in the podocytes, and swollen mitochondria with abnormal cristae in the podocytes. Coenzyme Q10 supplementation started about 3 weeks after the onset of mild kidney dysfunction did not improve the proband's kidney outcome. Proband-only whole-exome sequencing and Sanger sequencing revealed two heteroallelic COQ2 variants: a maternally inherited novel variant c.1013G > A[p.(Gly338Glu)] in exon 6 and a variant of unknown origin c.1159C > T[p.(Arg387*)] in exon 7. Subsequent long-read sequencing demonstrated these two variants were located on different alleles. Our report extends the phenotypic and genotypic spectrum of COQ2 glomerulopathy.
(© 2024 The Author(s). Nephrology published by John Wiley & Sons Australia, Ltd on behalf of Asian Pacific Society of Nephrology.)
Databáze: MEDLINE
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