Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review
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CASE REPORT
Open Access
Early-onset COQ8B (ADCK4) glomerulopathy in a child with isolated proteinuria: a case report and literature review Shu-bo Zhai, Li Zhang* , Bai-chao Sun, Yan Zhang and Qing-shan Ma
Abstract 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. Case presentation: 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. Conclusions: 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. Keywords: Isolated proteinuria, Child, COQ8B (ADCK4) Glomerulopathy, CoQ10
Background Proteinuria is one of the most common causes that prompt children and adolescents to visit a pediatric nephrologist. As reported by one study involving 37,645 children, 2.3% children have developed persistent proteinuria [1]. Transient or orthostatic proteinuria is usually benign, while persistent proteinuria may represent an early renal disease [2]. In fact, proteinuria is an independent risk factor that induces renal disease progression [3]. However, under numerous circumstances, proteinuria fails to arouse enough * Correspondence: [email protected] Department of Pediatrics Nephrology, First Hospital, Jilin University, Changchun 130021, Jilin, China
attention, and no accurate treatment is applied until it comes to end-stage renal disease (ESRD). In this paper, a child presented with isolated proteinuria was reported, and his renal histopathology showed mitochondrial nephropathy. Upon examinations, the disease was identified to be induced by the compound heterozygous variants in COQ8B (ADCK4) gene, and the patient was diagnosed with ADCK4-associated glomerulopathy (ADCK4-GN). ADCK4-GN is an autosomal recessive chronic kidney disease, which can be induced by allelic homogeneous variant or compound heterozygous variants of ADCK4 gene [4]. Patients with ADCK4
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