Identification of Nephrin gene variants in Indian children associated with Steroid sensitive and Steroid resistant nephrotic syndrome

Meta Gene ◽  
2021 ◽  
pp. 101004
Author(s):  
Glory S. Parmar ◽  
Jinal M. Thakor ◽  
Kinnari N. Mistry ◽  
Sishir Gang ◽  
Dharamshibhai N. Rank ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Variants ◽  
Indian Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Steroid Sensitive

scholarly journals Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome

2019 ◽  
Vol 15 (1) ◽  
pp. 89-100 ◽  
Author(s):  
Samuela Landini ◽  
Benedetta Mazzinghi ◽  
Francesca Becherucci ◽  
Marco Allinovi ◽  
Aldesia Provenzano ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Signs ◽  
Long Term Outcome ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Steroid Sensitive

Background and objectivesNephrotic syndrome is a typical presentation of genetic podocytopathies but occasionally other genetic nephropathies can present as clinically indistinguishable phenocopies. We hypothesized that extended genetic testing followed by reverse phenotyping would increase the diagnostic rate for these patients.Design, setting, participants, & measurementsAll patients diagnosed with nephrotic syndrome and referred to our center between 2000 and 2018 were assessed in this retrospective study. When indicated, whole-exome sequencing and in silico filtering of 298 genes related to CKD were combined with subsequent reverse phenotyping in patients and families. Pathogenic variants were defined according to current guidelines of the American College of Medical Genetics.ResultsA total of 111 patients (64 steroid-resistant and 47 steroid-sensitive) were included in the study. Not a single pathogenic variant was detected in the steroid-sensitive group. Overall, 30% (19 out of 64) of steroid-resistant patients had pathogenic variants in podocytopathy genes, whereas a substantial number of variants were identified in other genes, not commonly associated with isolated nephrotic syndrome. Reverse phenotyping, on the basis of a personalized diagnostic workflow, permitted to identify previously unrecognized clinical signs of an unexpected underlying genetic nephropathy in a further 28% (18 out of 64) of patients. These patients showed similar multidrug resistance, but different long-term outcome, when compared with genetic podocytopathies.ConclusionsReverse phenotyping increased the diagnostic accuracy in patients referred with the diagnosis of steroid-resistant nephrotic syndrome.

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

Levamisole treatment in steroid-sensitive and steroid-resistant nephrotic syndrome

1998 ◽  
Vol 12 (6) ◽  
pp. 459-462 ◽  
Author(s):  
K. Tenbrock ◽  
J. Müller-Berghaus ◽  
A. Fuchshuber ◽  
D. Michalk ◽  
U. Querfeld
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Steroid Sensitive

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

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

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.

scholarly journals Comparison of clinical and lab profile between steroid sensitive and steroid resistant nephrotic syndrome at onset of disease and evaluating predictors for developing steroid resistance in nephrotic syndrome

2020 ◽  
Vol 7 (6) ◽  
pp. 1304
Author(s):  
Anitha Palaniyandi ◽  
Subramani Palaniyandi
Keyword(s):  
Nephrotic Syndrome ◽  
Age At Onset ◽  
Steroid Resistance ◽  
First Episode ◽  
Observation Study ◽  
Serum Triglycerides ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Steroid Sensitive Nephrotic Syndrome ◽  
Steroid Sensitive

Background: Nephrotic syndrome is a notable chronic disease in children. The objective of this study was to compare the clinical and lab profile between steroid sensitive nephrotic syndrome and steroid resistant nephrotic syndrome at the onset of disease. Certain parameters were tested if they could be significate predictors of developing steroid resistance at the onset of first episode of nephrotic syndrome.Methods: Retrospective observation study done children 1-12 years diagnosed with nephrotic syndrome in Sri Ramachandra Medical College and Hospital, Department of Paediatrics, Chennai. Sample size 150. Period of study Jan 2013- Dec 2015. Variables considered were age at onset, sex, parental consanguinity with essential lab parameters done at the onset of nephrotic syndrome proteinuria, pyuria, microscopic hematuria, urine protein creatinine ratio, serum creatinine, serum triglycerides and serum albumin. Children less than 1 year of age, cases with secondary causes of nephrotic syndrome and steroid dependant nephrotic syndrome, children with incomplete records were not included in this study. 150 cases who fulfilled the study criteria were included in this study.Results: 75 cases of steroid sensitive nephrotic syndrome (SSNS) were compared with an equal number of steroid resistant nephrotic syndrome (SRNS). 85 children had onset of disease before 3 years of age and majority had 3+ proteinuria and males predominated in both the groups. The overall consanguinity rates were higher among SRNS group. Triglyceride level >300 mg/dl predominated in SRNS group along with a higher severity of hypoalbuminemia when compared to SSNS group. None of the parameters tested were significant predictors of developing SRNS subsequently.Conclusions: Comparing steroid sensitive with steroid resistance nephrotic syndrome, no lab parameter could identify the risk of a child developing steroid resistance subsequently. This could be a field of interest in future studies that could predict the development of steroid resistance at the onset of first episode of nephrotic syndrome itself. 

scholarly journals Role of urinary nitrites in predicting steroid responsiveness of nephrotic syndrome: a study conducted in tertiary care center

2020 ◽  
Vol 7 (4) ◽  
pp. 918
Author(s):  
Yerroju Kodandapani ◽  
Ajay Mohan Varahala ◽  
Rajesh Kumar Songa
Keyword(s):  
Nephrotic Syndrome ◽  
Care Center ◽  
Tertiary Care ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Selective Permeability ◽  
Chronic Disorder ◽  
Steroid Sensitive ◽  
Steroid Responsiveness

Background: Nephrotic Syndrome (NS) is a common chronic disorder, characterized by alterations of selective permeability at the glomerular capillary wall, resulting in its inability to restrict the urinary loss of protein. Urinary nitrite excretion serves as a useful investigation in differentiating between steroid responsive and steroid resistant nephrotic syndrome. The aim of the study was to assess the relation between urinary nitrite levels and steroid responsiveness in nephrotic syndrome in children.Methods: 76 children were enrolled in the study suffering with nephrotic syndrome of which 58 children were Steroid Sensitive (SSNS) and 18 were Steroid Resistant (SRNS). 25 children were enrolled as controls. The urinary nitrites were estimated in these subjects and the results were analyzed.Results: All the control subjects were tested negative for urinary nitrites. After achieving remission with steroids, out of 58 SSNS subjects’ 27 subjects tested positive for urinary nitrites, remaining 31 tested negatives for the same. Of the 18 SRNS subjects 1 subject tested positive for urinary nitrites remaining 17 subjects were tested negative for the same.Conclusions: The findings of present study suggest that urinary nitrite excretion is increased in patients with steroid responsive nephrotic syndrome. The urinary nitrite estimation has low NPV and high PPV in predicting steroid responsiveness.

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