APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses

Watanabe, Andréia; Guaragna, Mara Sanches; Belangero, Vera Maria Santoro; Casimiro, Fernanda Maria Serafim; Pesquero, João Bosco; Feltran, Luciana de Santis; Palma, Lílian Monteiro Pereira; Varela, Patrícia Siqueira; Neves, Precil Diego Miranda de Menezes; Lerário, Antônio Marcondes; Souza, Marcela Lopes de; Mello, Maricilda Palandi de; Lutaif, Anna Cristina Gervásio de Brito; Ferrari, Cassio Rodrigues; Sampson, Matthew G.; Onuchic, Luiz Fernando; Nogueira, Paulo Roberto

doi:10.1007/s00467-021-04960-w

Cited by 11 publications

(10 citation statements)

References 19 publications

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“…The kidney is one of the most energy-demanding organs in the human body, which requires a great deal of ATP production via mitochondria to meet its physiological requirements [ 17 ]. Relevant studies testify that SIRT6 is nearly correlated to the mitochondrial function of body cells [ 18 , 19 ]. SIRT6 exerts a critical role in antioxidant stress, mitochondrial substrate metabolism, and cell survival, and is able to mitigate the severity of renal tubular injury via protecting mitochondrial integrity [ 20 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

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Aberrant Expression of SIRT6 and VNN1 in Peripheral Blood Monocytes of Children with Primary Nephrotic Syndrome and Its Diagnostic and Prognostic Values

Han

Yuan

et al. 2022

Evidence-Based Complementary and Alternative Medicine

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Objective. The objective is to explore the aberrant sirtuin-6 (SIRT6) and Vanin-1 (VNN1) protein expression in peripheral blood monocytes (PBM) of children with primary nephrotic syndrome (PNS) and its diagnostic and prognostic values. Methods. 83 child patients with nephrotic syndrome (NS) and 65 healthy volunteers were enrolled in the study. The test of SIRT6 and VNN1 was performed by the Western blot. The receiver operator characteristic (ROC) curve was used to analyze the diagnostic and prognostic value of SIRT6 and VNN1 for child patients with NS. The logistic regression was used to analyze the association of SIRT6 and VNN1 with the prognosis of NS child patients. Results. SIRT6 in monocytes in the study group was inferior versus the control, while VNN1 outweighed it. The AUC of the combined detection of SIRT6 and VNN1 for the diagnosis of NS was 0.854, with a sensitivity of 80.0% and a specificity of 80.7%. The AUC of combined detection of SIRT6 and VNN1 for the prognosis of NS was 0.860, with a sensitivity of 84.6% and a specificity of 79.2%. The logistic regression analysis showed that less than 21.09 in SIRT6 was the number of risk factors for the prognosis of NS child patients ( P < 0.05 ). Conclusion. SIRT6 and VNN1 are provided with diagnostic and prognostic values for NS.

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Section: Discussionmentioning

confidence: 99%

“…The combined detection Refline correlated to the mitochondrial function of body cells [18,19]. SIRT6 exerts a critical role in antioxidant stress, mitochondrial substrate metabolism, and cell survival, and is able to mitigate the severity of renal tubular injury via protecting mitochondrial integrity [20,21].…”

Section: Sirtuin-6 Vanin-1mentioning

confidence: 99%

Aberrant Expression of SIRT6 and VNN1 in Peripheral Blood Monocytes of Children with Primary Nephrotic Syndrome and Its Diagnostic and Prognostic Values

Han

Yuan

et al. 2022

Evidence-Based Complementary and Alternative Medicine

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“…For example, Black South Africans with untreated human immunodeficiency virus (HIV) and 2 APOL1 risk alleles have been reported to have a more than 80-fold increased risk of developing HIVassociated nephropathy, but the magnitude of the risk conferred by the same risk alleles ranged between 1.2 and 2 for CKD or nondiabetic kidney failure (Figure 3). [67][68][69][70][71][72][73][74][75][76][77][78][79][80][81][82][83][84][85] Similarly, the combination of 2 common variants in the HLA-DR and PLA2R1 loci imparts a high risk of the complex disease membranous nephropathy, defying the common variant/small effect paradigm.…”

Section: Table 1 | Summary Points From the Genetics In Ckd Controvers...mentioning

confidence: 99%

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Köttgen¹,

Gall²,

Halbritter³

et al. 2022

Kidney International

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“…Collapsing glomerulopathy demonstrates no sex predilection, but preferentially affects patients of African descent. The disease also often affects young adult patients and has a varying predominance in the pediatric age group ( 10 , 13 , 17 , 19 , 20 , 57 ).…”

Section: Clinical Presentationmentioning

confidence: 99%

Collapsing Glomerulopathy: A Review by the Collapsing Brazilian Consortium

et al. 2022

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Collapsing glomerulopathy (CG) is a clinicopathologic entity characterized by segmentar or global collapse of the glomerulus and hypertrophy and hyperplasia of podocytes. The Columbia classification of 2004 classified CG as a histological subtype of focal segmental glomerulosclerosis (FSGS). A growing number of studies have demonstrated a high prevalence of CG in many countries, especially among populations with a higher proportion of people with African descent. The present study is a narrative review of articles extracted from PubMed, Medline, and Scielo databases from September 1, 2020 to December 31, 2021. We have focused on populational studies (specially cross-sectional and cohort articles). CG is defined as a podocytopathy with a distinct pathogenesis characterized by strong podocyte proliferative activity. The most significant risk factors for CG include APOL1 gene mutations and infections with human immunodeficiency virus and severe acute respiratory syndrome coronavirus 2. CG typically presents with more severe symptoms and greater renal damage. The prognosis is notably worse than that of other FSGS subtypes.

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APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses

Cited by 11 publications

References 19 publications

Aberrant Expression of SIRT6 and VNN1 in Peripheral Blood Monocytes of Children with Primary Nephrotic Syndrome and Its Diagnostic and Prognostic Values

Aberrant Expression of SIRT6 and VNN1 in Peripheral Blood Monocytes of Children with Primary Nephrotic Syndrome and Its Diagnostic and Prognostic Values

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Collapsing Glomerulopathy: A Review by the Collapsing Brazilian Consortium

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