scholarly journals Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome

2019 ◽  
Vol 7 (19) ◽  
pp. 3145-3148
Author(s):  
Moushira Zaki ◽  
Shreen El-Shaer ◽  
Sahar Rady ◽  
Manal Abd El-Salam ◽  
Ragaa Abd-El-Salam ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Mutational Analysis ◽  
Polymerase Chain Reaction Amplification ◽  
Disease Onset ◽  
Control Group ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Increased Risk ◽  
Egyptian Children ◽  
Nphs2 Gene

BACKGROUND: Mutations in the NPHS2 genes are the main aetiology of early-onset and familial steroid-resistant nephrotic syndrome (SRNS). The pathogenic NPHS2 mutation together with the p.R229Q variant has been less described among Egyptian children. AIM: This study aims to determine the mutation of NPHS2 in children with NS and discover the role of p.R229Q variant in SRNS METHODS: The study included 53 children with NS, and 53 healthy volunteers matched in age and sex controls. The median age at disease onset was 7.3 years. Among NS cases, 31 cases had steroid-sensitive nephrotic syndrome (SSNS) and 22 children with steroid-resistant nephrotic syndrome (SRNS). Polymerase chain reaction amplification of the whole coding region of NPHS2 gene was carried out for its mutational analysis. Restriction digestion testing was carried out after PCR to determine the presence of R229Q polymorphism. Randomly selected samples were re-genotyped by two independent technicians for assessment of Quality control RESULTS: NS patients showed a significant higher frequency of heterozygous genotype GA (89.5%) compared to control group (10.5%) with increased risk of NS (OR, 12.04; 95% CI, 2.61 to55.38; p < 0.0001). Moreover, SRNS showed a significant higher frequency of GA genotype (68.2%) than the SSNS group (6.5%). The GA genotype was associated with increased risk of SRNS (OR, 31.1; 95% CI, 5.73 to 168.48; P < 0.001) and the A allele was associated with increased risk of SRNS (OR, 15.52; 95% CI, 3.325 to 72.422; P < .001). CONCLUSION: R229Q polymorphisms are associated with SRNS, and any child with SRNS should be searched for mutations in the NPHS2 gene.

scholarly journals NPHS2 gene mutation, atopy, and gender as risk factors for steroid-resistant nephrotic syndrome in Indonesians

2011 ◽  
Vol 51 (5) ◽  
pp. 272 ◽  
Author(s):  
Dedi Rachmadi ◽  
Danny Hilmanto ◽  
Ponpon Ijradinata ◽  
Abdurahman Sukadi
Keyword(s):  
Risk Factors ◽  
Nephrotic Syndrome ◽  
Gene Mutation ◽  
Significant Risk ◽  
Gene Mutations ◽  
Male Gender ◽  
Amplification Refractory Mutation System ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

Background Steroid-resistant nephrotic syndrome (SRNS) often develops into end stage renal disease. Previous studies have reported that NPHS2 gene mutation, gender, and atopic history are risk factors associated with SRNS. Interethnic, sociocultural, and environmental differences have also been suggested to affect these mutations.Objective To analyze possible risk factors for SRNS, including NPHS2 gene mutations (412C→T and 419delG), gender and atopic history, in Indonesian subjects with SRNS.Methods A case-control study with 153 subjects, consisting of 88 SRNS patients and 65 control subjects, was undertaken in 10 Indonesian teaching centre hospitals from September 2006 to December 2007. Analysis of the NPHS2 gene mutation in 412 C→T was performed by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), while that for the NPHS2 gene mutation in 419delG was performed by restriction fragment length polymorphism (RFLP). Data was analyzed by multiple logistic regression.Results In our Indonesian subjects, the significant risk factors for SRNS were male gender (OR=2.21; CI 95%:1.07-4.56, P=0.036), NPHS2 412C→T gene mutation (OR=18.07; CI 95%:6.76-48.31, P<0.001), and NPHS2 419delG gene mutation (OR=4.55; CI 95%:1.66-12.47, P=0.003). However, atopic history was not a significant risk factor for SRNS (OR=1.807; CI 95%:0.642-5.086, P=0.262).Conclusion NPHS2 412C→T and 419delG gene mutations, as well as male gender are risk factors for SRNS in Indonesian subjects. Atopic history was not significantly associated with SRNS in our subjects. [Paediatr Indones. 2011;51:272-6].

TRPC6 and NPHS2 gene variants in adult patients with steroid-resistant nephrotic syndrome in North-West of Iran

2019 ◽  
Vol 46 (6) ◽  
pp. 6339-6344
Author(s):  
Sepideh Zununi Vahed ◽  
Hakimeh Moghaddas Sani ◽  
Mehdi Haghi ◽  
Mohammadali Mohajel Shoja ◽  
Mohammadreza Ardalan
Keyword(s):  
Nephrotic Syndrome ◽  
Adult Patients ◽  
Gene Variants ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
North West ◽  
Nphs2 Gene

scholarly journals Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome

2014 ◽  
Vol 13 (4) ◽  
pp. 9514-9522 ◽  
Author(s):  
D.N. Feng ◽  
Y.H. Yang ◽  
D.J. Wang ◽  
D.C. Meng ◽  
R. Fu ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Mutational Analysis ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals The role of cell signaling molecules in the pathogenesis of glomerulonephritis in children

2021 ◽  
Vol 64 (2) ◽  
pp. 37-41
Author(s):  
Angela Ciuntu ◽  
Keyword(s):  
Nephrotic Syndrome ◽  
Cell Signaling ◽  
Clinical Manifestations ◽  
Signaling Molecules ◽  
Control Group ◽  
Healthy Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Steroid Sensitive Nephrotic Syndrome ◽  
Steroid Sensitive

Background: Cytokines are functional class of tiny proteins and glycoprotein and fundamentally they are monomers that function as soluble mediators in an autocrine or paracrine manner. Cytokines are produced by a number of cell types, predominantly leukocytes, and their targets implicate both immune and non-immune cells. Material and methods: This study was performed on 75 children with glomerulonephritis (GN), aged from 2 up to 17 years. There were 20 children with steroid-sensitive nephrotic syndrome (SSNS), 15 children with steroid-resistant nephrotic syndrome (SRNS), 20 children with chronic glomerulonephritis (CGN) nephrotic form and 20 children with CGN mixed form. This study was performed on patients experiencing disease relapse and clinical remission. The control group consisted of 20 healthy children. Results: The results of this study demonstrated increased levels of cell signaling molecules (IL-8, TNF-α, MCP-1, MIP-1α) in the urine during clinical manifestations, valuable result due to their major role in the immunopathogenic mechanism of proteinuria in nephrotic syndrome. Conclusions: Determination of urinary concentrations of cellular signaling molecules may be useful as a predictive non-invasive method for estimating disease activity, monitoring disease progression, differentiating steroid-sensitive nephrotic syndrome from steroid-resistant nephrotic syndrome, and assessing the effectiveness of treatment in children with different variants of GN

WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome

2016 ◽  
Vol 426 (1-2) ◽  
pp. 177-181 ◽  
Author(s):  
Aravind Selvin Kumar Ramanathan ◽  
Murali Vijayan ◽  
Srilakshmi Rajagopal ◽  
Padmaraj Rajendiran ◽  
Prabha Senguttuvan
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Mutation ◽  
Mutation Analysis ◽  
Clinical Management ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Gene Mutation Analysis ◽  
Nphs2 Gene

A genetic study of steroid-resistant nephrotic syndrome: relationship between polymorphism -173 G to C in the MIF gene and serum level MIF in children

2015 ◽  
Vol 7 (1) ◽  
pp. 102-107 ◽  
Author(s):  
O. R. Ramayani ◽  
N. Sekarwana ◽  
P. P. Trihono ◽  
A. H. Sadewa ◽  
A. Lelo
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Resistance ◽  
Enzyme Linked Immunosorbent Assay ◽  
Healthy Children ◽  
Single Nucleotide ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Increased Risk ◽  
Steroid Sensitive Nephrotic Syndrome ◽  
Steroid Sensitive

There is no satisfactory explanation as to why some nephrotic syndrome (NS) patients respond to glucocorticoids and others do not. The aim of this study was to investigate an association between single nucleotide polymorphism of the MIF gene -rs755622 and serum MIF concentrations in NS patients. During a period between November 2011 and September 2012, 120 consecutive children divided into three groups [healthy children, steroid-resistant nephrotic syndrome (SRNS) and steroid-sensitive nephrotic syndrome (SSNS)] were examined. Children were defined as healthy when they had a normal estimated glomerular filtration rate and spot urinary albumin creatinine ratio <150 μg/mg creatinine. SRNS was diagnosed in children who did not respond to the usual doses of steroids within 4 weeks of initiating treatment. SSNS patients were defined as those who had remission after usual doses of steroids. The genotype of -173 G to C polymorphism of the MIF gene was determined using polymerase chain reaction restriction fragment length polymorphism methods. Serum MIF concentration was measured using sandwich enzyme-linked immunosorbent assay. The allele frequency of the C allele was higher in SRNS compared with that of SSNS patients (P=0.025). There was a trend toward an association between genotypes and serum MIF disturbances. In conclusion, this study noted elevated circulating serum MIF levels and higher frequency of the C allele of the MIF gene in SRNS patients. The presence of the C allele implies an increased risk for steroid resistance.

SCREENING OF MUTATIONS IN THE NPHS2 GENE IN GREEK PATIENTS WITH AUTOSOMAL-RECESSIVE STEROID-RESISTANT NEPHROTIC SYNDROME

PEDIATRICS ◽  
2008 ◽  
Vol 121 (Supplement 2) ◽  
pp. S117.1-S117
Author(s):  
Spyridon Megremis ◽  
Artemis Mitsioni ◽  
Andromachi Mitsioni ◽  
Constantinos Stefanidis ◽  
Sofia Kitsiou-Tzelli ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

scholarly journals Novel Mutations in NPHS2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome

2002 ◽  
Vol 13 (2) ◽  
pp. 388-393 ◽  
Author(s):  
Stephanie M. Karle ◽  
Barbara Uetz ◽  
Vera Ronner ◽  
Lisa Glaeser ◽  
Friedhelm Hildebrandt ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Positional Cloning ◽  
Mutational Analysis ◽  
Causative Gene ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Stage Renal Disease ◽  
End Stage

ABSTRACT. Autosomal recessive steroid-resistant nephrotic syndrome (SRINS) belongs to the heterogeneous group of familial nephrotic syndrome and represents a frequent cause of end-stage renal disease in childhood. This kidney disorder is characterized by early onset of proteinuria, progression to end-stage renal disease, and histologic findings of focal segmental glomerulosclerosis, minimal change nephrotic syndrome, or both. A causative gene, NPHS2, has been mapped to chromosome 1q25-q31 and was recently identified by positional cloning. This study reports five novel NPHS2 mutations: A284V, R196P, V290M, IVS4-1G→T, and 460-467insT in 12 (46%) of 26 multiplex families and in 7 (28%) of 25 single patients with the clinical diagnosis of a SRINS. Because NPHS2 mutations were found in nearly 30% of these patients with “sporadic” SRINS, mutational analysis should also be performed in these patients. Besides better classification of the disease entity, identification of NPHS2 mutations may save some of these patients from unnecessary steroid treatment and also permit the prediction of absence of disease recurrence after kidney transplantation.

scholarly journals First Report of Preimplantation Genetic Diagnosis for Steroid-Resistant Nephrotic Syndrome

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Faravareh Khordadpoor Deilamani ◽  
Mohammad Taghi Akbari
Keyword(s):  
Nephrotic Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Inheritance ◽  
Cycle Sequencing ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Str Markers ◽  
The Status ◽  
Nphs2 Gene

Background: Steroid-resistant nephrotic syndrome is a genetic disease with autosomal recessive inheritance pattern and symptoms such as proteinuria and hypoalbuminemia and rapid progress of kidney disease. Preimplantation genetic diagnosis is an option for couples who are at risk of affected pregnancy to have a healthy child. Objectives: This study aimed to develop a new PGD test for a couple who are heterozygous for a mutation in NPHS2 gene and have a son affected to steroid-resistant nephrotic syndrome. Methods: Variant detection by cycle sequencing and Multiplex fluorescent PCR for identification of flanking STR markers were used to investigate the status of the embryos. Results: Three out of six embryos were transferable from which one was transferred and resulted in the birth of a healthy boy. Conclusions: We recommend increasing the number of the STR markers to two at the downstream of the NPHS2 gene especially in cases that direct mutation analysis such as cycle sequencing is not applied.

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