Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2201
Abstract: BACKGROUND Nephrotic syndrome (NS) is one of the most common kidney disorders seen by pediatric nephrologists and is defined by the presence of heavy proteinuria (>3.5 g/24 h), hypoalbuminemia ( read more here.
Keywords: omani children; resistant nephrotic; syndrome; steroid resistant ... See more keywords
Treatment of steroid-resistant nephrotic syndrome in the genomic era
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Nephrology"
DOI: 10.1007/s00467-018-4093-1
Abstract: The pathogenesis of steroid-resistant nephrotic syndrome (SRNS) is not completely known. Recent advances in genomics have elucidated some of the molecular mechanisms and pathophysiology of the disease. More than 50 monogenic causes of SRNS have… read more here.
Keywords: treatment steroid; resistant nephrotic; nephrotic syndrome; steroid resistant ... See more keywords
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Nephrology"
DOI: 10.1007/s00467-019-04256-0
Abstract: BackgroundHeterozygous PAX2 mutations cause renal coloboma syndrome (RCS) [OMIM no. 120330]. RCS is a renal syndromic disease encompassing retinal coloboma and sensorineural hearing loss. Recently, a causative role for PAX2 was reported in adult-onset nephrotic… read more here.
Keywords: resistant nephrotic; steroid resistant; pax2 mutations; fsgs ... See more keywords
Liposorber® LA-15 system for LDL apheresis in resistant nephrotic syndrome patients
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Nephrology"
DOI: 10.1007/s00467-021-05211-8
Abstract: Steroid-resistant nephrotic syndrome (SRNS) is a major cause of stage 5 chronic kidney disease (CKD 5) in children. LDL apheresis (LDL-A) is now FDA approved for the treatment of pediatric focal segmental glomerulosclerosis (FSGS). Effective… read more here.
Keywords: ldl apheresis; treatment; resistant nephrotic; nephrotic syndrome ... See more keywords
Immunosuppressive therapy for steroid-resistant nephrotic syndrome: a Bayesian network meta-analysis of randomized controlled studies
Sign Up to like & getrecommendations! Published in 2017 at "Clinical and Experimental Nephrology"
DOI: 10.1007/s10157-017-1484-8
Abstract: BackgroundThe purpose of this study was to conduct a meta-analysis examining the efficacy of cyclophosphamide, cyclosporin, and tacrolimus in treating steroid resistant nephrotic syndrome.MethodsMedline, Cochrane, EMBASE, and Google Scholar were searched until May 02, 2017… read more here.
Keywords: immunosuppressive therapy; resistant nephrotic; meta analysis; analysis ... See more keywords
Various phenotypes of disease associated with mutated DGKE gene.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103953
Abstract: Atypical haemolytic uraemic syndrome and steroid-resistant nephrotic syndrome are highlyrare kidney diseases that can occur in childhood. In some cases, genetic variants may trigger these conditions, although in atypical haemolytic uraemic syndrome they mostly confer… read more here.
Keywords: resistant nephrotic; uraemic syndrome; atypical haemolytic; steroid resistant ... See more keywords
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Kidney international"
DOI: 10.1016/j.kint.2019.06.016
Abstract: Steroid-resistant nephrotic syndrome is a frequent cause of chronic kidney disease almost inevitably progressing to end-stage renal disease. More than 58 monogenic causes of SRNS have been discovered and majority of known steroid-resistant nephrotic syndrome… read more here.
Keywords: slit diaphragm; resistant nephrotic; mutations kirrel1; nephrotic syndrome ... See more keywords
Steroid-resistant nephrotic syndrome: pharmacogenetics and epigenetic points and views
Sign Up to like & getrecommendations! Published in 2019 at "Expert Review of Clinical Pharmacology"
DOI: 10.1080/17512433.2020.1702877
Abstract: ABSTRACT Introduction: Glucocorticoids (GCs) are the first-line therapy for patients with nephrotic syndrome (NS), a common glomerular disease, that cause complete remission in most of the cases. In response to the treatment, NS patients are… read more here.
Keywords: syndrome pharmacogenetics; resistant nephrotic; nephrotic syndrome; steroid resistant ... See more keywords
Short stature and dysmorphic features in Asian Indian siblings with DAAM2‐associated steroid‐resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Genetics"
DOI: 10.1111/cge.14565
Abstract: Variants in more than 60 different genes, most of which code for podocyte‐related proteins, have been found to be associated with monogenic forms of nephrotic syndrome (NS). Biallelic variants in DAAM2, a member of the… read more here.
Keywords: short stature; daam2 associated; nephrotic syndrome; steroid resistant ... See more keywords
A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85‐Associated Steroid‐Resistant Nephrotic Syndrome
Sign Up to like & getrecommendations! Published in 2025 at "Clinical Genetics"
DOI: 10.1111/cge.14703
Abstract: Steroid‐resistant nephrotic syndrome (SRNS) is a severe kidney disorder linked to over 60 genes, including NUP85, which plays a key role in nuclear pore function and glomerulogenesis. We identified a novel homozygous NUP85 variant (NM_024844.5:… read more here.
Keywords: nephrotic syndrome; steroid resistant; spectrum nup85; resistant nephrotic ... See more keywords
OC8 High prevalence of wt1 gene mutations in patients with steroid-resistant nephrotic syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.8
Abstract: Background and aims Steroid-resistant nephrotic syndrome (SRNS) is the rare disease and holds a special place in structure of nephrotic syndrome in children, it takes up to 15–25% among other forms of the nephrotic syndrome.… read more here.
Keywords: resistant nephrotic; steroid resistant; wt1 gene; gene ... See more keywords