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].

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

Case Report. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

Nephrology ◽  
2004 ◽  
Vol 9 (5) ◽  
pp. 310-312 ◽  
Author(s):  
ESRA ARUN OZER ◽  
NEJAT AKSU ◽  
HAKAN ERDOGAN ◽  
ONDER YAVASCAN ◽  
ORHAN KARA ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Gene Mutation ◽  
Turkish Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

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 Plasmapheresis-induced Clinical Improvement in a Patient with Steroid-Resistant Nephrotic Syndrome Due to Podocin (NPHS2) Gene Station

2010 ◽  
Vol 53 (3) ◽  
pp. 157-159 ◽  
Author(s):  
Sylva Skálová ◽  
Miroslav Podhola ◽  
Karel Vondrák ◽  
Gil Chernin
Keyword(s):  
Nephrotic Syndrome ◽  
Clinical Improvement ◽  
Combined Therapy ◽  
Immunosuppressive Agents ◽  
Gene Mutations ◽  
First Year ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Heterozygous Form ◽  
First Year Of Life

Podocin mutations (NPHS2 gene) are mostly responsible for steroid-resistant nephrotic syndrome (SRNS) of childhood onset. Patients with NPHS2 gene mutations do not respond to corticoids and other immunosuppressive agents; partial remission can be rarely induced by cyclosporin A. We present a boy, where SRNS was diagnosed within first year of life. By the age of 15 years, proteinuria reached 9000 mg/24 h, cholesterolemia 15 mmol/L, albuminemia 19.6 g/L, in spite of combined therapy with cyclosporine A, methylprednisolone, enalapril and losartan. At that time a combined heterozygous form of two NPHS2 gene mutations (p.R138Q and p.V290M) was diagnosed, methylprednisolone was discontinued and patient underwent ten plasmapheresis procedures. This resulted in clinical improvement (proteinuria 3000 mg/24 h, S-cholesterol 6 mmol/L, albumin 30g/L) lasting for three years. In conclusion, plasmapheresis can result in clinical improvement and stabilization of SRNS caused by podocine mutation, before renal replacement therapy is initiated.

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 Wilms′ tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome

2016 ◽  
Vol 144 (2) ◽  
pp. 276 ◽  
Author(s):  
Prabha Senguttuvan ◽  
AravindSelvin Kumar ◽  
R Srilakshmi ◽  
SMK Karthickeyan ◽  
K Balakrishnan ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Mutations ◽  
Wilms Tumour ◽  
Indian Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
South Indian

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 The importance of genetic study in steroid-resistant nephrotic syndrome

2019 ◽  
Vol 8 (4) ◽  
pp. 271-282 ◽  
Author(s):  
Sepideh Zununi Vahed ◽  
Hakimeh Moghaddas Sani ◽  
Sima Rajabzadeh ◽  
Ziba Nariman-Saleh-Fam ◽  
Mina Hejazian ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Current Knowledge ◽  
Gene Mutations ◽  
Therapeutic Benefit ◽  
Steroid Resistance ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Filtration Barrier ◽  
Stage Renal Disease ◽  
End Stage

Steroid-resistant nephrotic syndrome (SRNS) is a challenging clinical task. It has heterogeneous etiology and extremely variable clinical outcomes and generally progresses to end-stage renal disease (ESRD). Different gene mutations in podocyte’s slit diaphragm, mitochondria, and cytoskeleton proteins, as well as glomerular basement membrane (GBM) have been associated with SRNS. These proteins regulate the function of the glomerular filtration barrier. Advances in genetic approaches and podocytology have led to discover the SRNS-causing genes that lead to a better understanding of the drug resistance. More than 45 genetic mutations have been recognized in the hereditary form of SRNS. This review offers an update on the current knowledge of steroid resistance-causing gene mutations in podocytes. Understanding the specific genes involved in SRNS would guarantee an optimum therapeutic benefit of steroid treatment.

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