Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern
نویسندگان
چکیده
منابع مشابه
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
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 nephro...
متن کاملClinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
BACKGROUND AND OBJECTIVES To date, very few cases with adult-onset focal segmental glomerulosclerosis (FSGS) carrying NPHS2 variants have been described, all of them being compound heterozygous for the p.R229Q variant and one pathogenic mutation. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS Mutation analysis was performed in 148 unrelated Spanish patients, of whom 50 presented with FSGS afte...
متن کاملNPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.
1 Pediatrics Center of Excellence. Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran) 2 Research Center for Immunodeficiencies. Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran) 3 Department of Pediatrics. Faculty of Medicine, Hacettepe University. Ankara (Turkey) 4 Institute of Human Genetics, University Hospital of Magdeburg. Magdebur...
متن کاملSerum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome.
A plasma factor displaying permeability activity in vitro and possibly determining proteinuria has been hypothesized in idiopathic focal segmental glomerulosclerosis (FSGS). In vitro permeability activity (P(alb)) was determined in sera of five patients with autosomal recessive steroid-resistant nephrotic syndrome (NPHS2), an inherited condition indistinguishable from idiopathic FSGS on clinica...
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...
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ژورنال
عنوان ژورنال: Clinical and Experimental Nephrology
سال: 2016
ISSN: 1342-1751,1437-7799
DOI: 10.1007/s10157-016-1331-3