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

• Published in: BMC nephrology 2020-09, Vol.21 (1), p.406-406, Article 406
• Main Authors: Zhai, Shu-Bo, Zhang, Li, Sun, Bai-Chao, Zhang, Yan, Ma, Qing-Shan
• Format: Article
• Language: English
• Subjects: Age; Case Report; Case studies; Child; Children & youth; Coenzyme Q10; Coenzymes; CoQ10; COQ8B (ADCK4) Glomerulopathy; Creatinine; Diagnosis; Dietary supplements; Families & family life; Genes; Genetic aspects; Glomerulonephritis; Health aspects; Hepatitis; Histopathology; Hypertrophy; Isolated proteinuria; Kidney diseases; Kinases; Literature reviews; Lupus; Mitochondria; Mitochondrial DNA; Molecular weight; Mutation; Nephrology; Nephropathy; Nephrotic syndrome; Patients; Pediatric research; Pediatrics; Phenotypes; Proteinuria; Urine
• ISSN: 1471-2369; 1471-2369
• DOI: 10.1186/s12882-020-02038-7

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. The patient visited our clinic due to non-nephrotic range proteinuria for 3 months, but no obvious abnormality was detected in the vital signs or laboratory test results. Renal histopathology revealed mitochondrial nephropathy, which manifested as mild glomerular abnormalities under light microscope, together with mitochondrial proliferation and hypertrophy and crowded arrangement under electron microscope. As suggested by whole exome sequencing, the patient inherited the COQ8B compound heterozygous variants from both of his parents who showed normal phenotype. After literature review, it was confirmed that one of the variant site (c.[271C > T]) had not been reported among the East Asian populations so far. Steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis are the most common phenotypes and renal histopathological manifestations of COQ8B variant. Nonetheless, our case shows that such variant may have hidden and mild clinical manifestations at the early onset. Therefore, early diagnosis will help to identify children at the early disease stage who have opportunity to benefit from oral coenzyme Q10 supplementation.