Genetic testing in steroid-resistant nephrotic syndrome: when and how?
نویسندگان
چکیده
منابع مشابه
Steroid Resistant Nephrotic Syndrome
Minimal Change disease (MCD) is the most common cause of Nephrotic Syndrome (NS) in children accounting for 70 to 90% of cases under the age of 10 years and 50% in older children.In adults MCD is found in 10 to 15% of cases with primary nephrotic syndrome. Most patients with MCD remit with steroids.1 Remission is defined as absence of proteinuria (urine albumin nil or trace on 3 conservative da...
متن کاملChildren with Steroid-resistant Nephrotic Syndrome: a Single-Center Study
Background and Aim: Steroid-resistant nephrotic syndrome (SRNS) accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. These patients are at risk of developing end-stage renal disease. The aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with SRNS.Materials and Met...
متن کاملClinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.
BACKGROUND AND OBJECTIVES The increasing number of podocyte-expressed genes implicated in steroid-resistant nephrotic syndrome (SRNS), the phenotypic variability, and the uncharacterized relative frequency of mutations in these genes in pediatric and adult patients with SRNS complicate their routine genetic analysis. Our aim was to compile the clinical and genetic data of eight podocyte genes a...
متن کاملThe Genetic Basis of Steroid-resistant Nephrotic Syndrome
Nephrotic syndrome (NS) is characterized by massive proteinuria (over 40 mg/m2/day) leading to hypoalbuminemia and edema. The prevalence in the general population is estimated to be 16/100,000 children (1). Whereas most children with NS would achieve remission within 4 weeks of daily steroid therapy, 10-20% remain steroid-resistant (SRNS). At least 50% of patients with SRNS, presenting in child...
متن کاملClinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations
BACKGROUND There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ab...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2015
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfv355