Genetic Basis of Steroid Resistant Nephrotic Syndrome

Park, Eujin

doi:10.3339/jkspn.2019.23.2.86

Cited by 3 publications

(2 citation statements)

References 73 publications

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“…Additionally, MYH9 gene deletion was observed to affect the repopulation ability of haematopoietic stem/progenitor cells while increasing apoptosis, implying its involvement in organismal haematopoiesis (31). Furthermore, proteomic analysis revealed the significant potential of MYH9 in early prediction of GCR childhood nephrotic syndrome, positioning it as a potential candidate biomarker for evaluating glucocorticoid efficacy (32)(33)(34). Our proteomics study also found that the difference in MYH9 protein levels between the GCS and GCR groups was statistically significant.…”

Section: Discussionsupporting

confidence: 59%

Predicting the efficacy of glucocorticoids in pediatric primary immune thrombocytopenia using plasma proteomics

Cao,

Zhu,

et al. 2023

Front. Immunol.

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ObjectivePrimary immune thrombocytopenia (ITP) is the most common acquired autoimmune bleeding disorder among children. While glucocorticoids are the primary first-line treatment for ITP treatment, they prove ineffective in certain patients. The challenge of identifying biomarkers capable of early prediction regarding the response to glucocorticoid therapy in ITP persists. This study aimed to identify ideal biomarkers for predicting glucocorticoid efficacy in patients with ITP using plasma proteomics.MethodsA four-dimensional data-independent acquisition approach was performed to determine the differentially expressed proteins in plasma samples collected from glucocorticoid-sensitive (GCS) (n=18) and glucocorticoid-resistant (GCR) (n=17) children with ITP treated with prednisone. The significantly differentially expressed proteins were selected for enzyme-linked immunosorbent assay validation in a cohort conprising 65 samples(30 healthy controls, 18 GCS and 17 GCR children with ITP). Receiver operating characteristics curves, calibration curves, and clinical decision curve analysis were used to determine the diagnostic efficacy of this method.Results47 differentially expressed proteins (36 up-regulated and 11 down-regulated) were identified in the GCR group compared with the GCS group. The significantly differentially expressed proteins myosin heavy chain 9 (MYH9) and fetuin B (FETUB) were selected for enzyme-linked immunosorbent assay validation. The validation results were consistent with the proteomics analyses. Compared with the GCS group, the GCR group exhibited a significantly reduced the plasma concentration of MYH9 and elevated the plasma concentration of FETUB. Furthermore, the receiver operating characteristics curves, calibration curves, and clinical decision curve analysis demonstrated good diagnostic efficacy of these validated biomarkers.ConclusionThis study contributes to the establishment of objective biological indicators for precision therapy in children with ITP. More importantly, the proteins MYH9 and FETUB hold potential as a foundation for making informed decisions regarding alternative treatments for drugresistant patients, thereby preventing treatment delays.

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Section: Discussionsupporting

confidence: 59%

Predicting the efficacy of glucocorticoids in pediatric primary immune thrombocytopenia using plasma proteomics

Cao,

Zhu,

et al. 2023

Front. Immunol.

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“…Initially, Kestilä et al identified NPHS1 as the causative gene for the Finnish form of congenital nephrotic syndrome [14]. Over 250 mutations within the NPHS1 gene have already been implicated in a variety of kidney disorders [15].…”

Section: Introductionmentioning

confidence: 99%

Association between NPHS1 and NPHS2 genes polymorphism and Risk of the primary nephrotic syndrome among Egyptian Populations

Conference¹

2022

Egypt. J. Chem.

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Background: One of the most frequent kidney disorders in underdeveloped nations is a pediatric nephrotic syndrome (PNS), which has significant morbidity due to cardiovascular consequences such as thrombosis, increased infection risk, and malnutrition. NS has been linked to the NPHS1 and NPHS2 genes, which have been identified as the causal genes. The goal of this study was to see if the NPHS1 rs437168 and NPHS2 rs3829795 genetic variations play a role in nephrotic syndrome susceptibility (NS). Methods: From October 2021 to April 2022, case-control research was done in the Pediatric Nephrology Unit of Mansoura University Children's Hospital. The study included 100 children with NS who were separated into two groups: the patient group, which included 71 children with SRNS, 29 children with SSNS, and the control group, which included 100 healthy matched volunteers. Peripheral blood was used to obtain genomic DNA. ARMS-PCR was used to genotype singlenucleotide polymorphisms. Results: Molecular study showed NPHS1 rs437168, as well as NPHS2 rs3829795, GA, AA, genotype, dominant model. GA genotype was found in 14 SDNS cases from 29 children representing (48.3%) while SRNS cases show 42 from 71children representing (59.2%) showing a significant frequency with risk of SRNS (OR=1.806, CI (1.017-3.204), P=0.044). Moreover, AA genotype was found only in 1(3.4%) case of SDNS and 13 cases (18.3%) of SRNS showing a significant increase in the risk of SRNS (OR = 3.981, CI (1.343-11.799, P= 0.013). The A allele showed a significantly higher frequency associated with the risk of SRNS (OR= 1.687, CI. (1.146 -2.485), P =0.008). While rs3829795 genotypes and alleles were not significantly associated with risk of SRNS where GA as well as AA genotype p>0.05. Additionally, A highly statically significant decrease in serum albumin levels between NS patients as well as SRNS and SDNS compared to healthy control cases. While A highly substantial increase in total cholesterol and triglycerides levels between NS patients (SRNS) and (SDNS) compared to the healthy control group. On the other hand, no substantial differences were found among SDNS and SRNS regarding albumin, total cholesterol, or triglyceride level. Conclusion: Our results showed that the NPHS1 rs437168 polymorphism, as well as the NPHS2 rs3829795, may be associated with the development of NS in Egyptian primary nephrotic and a significant association between the NPHS1 rs437168 and the development of SRNS While no significant association between the development of SRNS and NPHS2 rs3829795 gene polymorphism.

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Current Understanding of Nephrotic Syndrome in Children

Mattoo

Sanjad²

2022

Pediatric Clinics of North America

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Genetic Basis of Steroid Resistant Nephrotic Syndrome

Cited by 3 publications

References 73 publications

Predicting the efficacy of glucocorticoids in pediatric primary immune thrombocytopenia using plasma proteomics

Predicting the efficacy of glucocorticoids in pediatric primary immune thrombocytopenia using plasma proteomics

Association between NPHS1 and NPHS2 genes polymorphism and Risk of the primary nephrotic syndrome among Egyptian Populations

Current Understanding of Nephrotic Syndrome in Children

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