Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review

BACKGROUND: Herein, a 3-year-old boy presented with hidden-onset isolated proteinuria was reported. The disease was induced by COQ8B (previously termed ADCK4) compound heterozygous variants, including c.[271C > T] and c.[737G > A], which were inherited from his father and mother, respectively....

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Detalles Bibliográficos
Autores principales: Zhai, Shu-bo, Zhang, Li, Sun, Bai-chao, Zhang, Yan, Ma, Qing-shan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507654/
https://www.ncbi.nlm.nih.gov/pubmed/32957916
http://dx.doi.org/10.1186/s12882-020-02038-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507654/
https://www.ncbi.nlm.nih.gov/pubmed/32957916
http://dx.doi.org/10.1186/s12882-020-02038-7

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