Focal segmental glomerulosclerosis with a mutation in the <i>mitochondrially encoded NADH dehydrogenase 5</i> gene: A case report.

Naganuma, Tsukasa; Imasawa, Toshiyuki; Nukui, Ikuo; Wakasugi, Masakiyo; Kitamura, Hiroshi; Yatsuka, Yukiko; Kishita, Yoshihito; Okazaki, Yasushi; Murayama, Kei; Jinguji, Yoshimi

Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report.

Naganuma, Tsukasa; Imasawa, Toshiyuki; Nukui, Ikuo; Wakasugi, Masakiyo; Kitamura, Hiroshi; Yatsuka, Yukiko; Kishita, Yoshihito; Okazaki, Yasushi; Murayama, Kei; Jinguji, Yoshimi.

Afiliación

Naganuma T; Division of Nephrology, Department of Internal Medicine, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-0027, Japan.
Imasawa T; Department of Nephrology, National Hospital Organization Chiba-Higashi National Hospital, 673 Nitona-cho, Chuoh-ku, Chiba-city, Chiba 206-8712, Japan.
Nukui I; Division of Nephrology, Department of Internal Medicine, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-0027, Japan.
Wakasugi M; Division of Nephrology, Department of Internal Medicine, Yamanashi Prefectural Central Hospital, 1-1-1 Fujimi, Kofu, Yamanashi 400-0027, Japan.
Kitamura H; Department of Clinical Pathology, National Hospital Organization Chiba-Higashi National Hospital, 673 Nitona-cho, Chuoh-ku, Chiba-city, Chiba 206-8712, Japan.
Yatsuka Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Okazaki Y; Department of Life Science, Faculty of Science and Engineering, Kindai University, 3-4-1 Kowakae, Higashiosaka, Osaka 577-8502, Japan.
Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo 113-8421, Japan.
Jinguji Y; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, Japan.

Mol Genet Metab Rep ; 35: 100963, 2023 Jun.

Article en En | MEDLINE | ID: mdl-36941957

Palabras clave

ATP, adenosine triphosphate; AiDIVs, age-inappropriately disarranged and irregularly sized vascular smooth muscle cells; COX IV, cytochrome c oxidase subunit 4; Case report; Cr, creatinine; FSGS, focal segmental glomerulosclerosis; Focal segmental glomerulosclerosis; GSECs, granular swollen epithelial cells; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MRC, mitochondrial respiratory chain; MT-ND5, mitochondrially encoded ND5; Mitochondrial nephropathy; NADH dehydrogenase 5; ND5, NADH dehydrogenase 5; OXPHOS:, oxidative phosphorylation; Podocyte; ReCPos, red-coloured podocytes; eGFR, estimated glomerular filtration rate; mtDNA, mitochondrial DNA; nDNA, nuclear DNA; sCr, serum creatinine

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2023 Tipo del documento: Article País de afiliación: Japón