Funcional analysis of variants in NPHS2 promoter identified in brazilian patients with nephrotic syndrome
نویسندگان
چکیده
منابع مشابه
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
Focal segmental glomerulosclerosis and minimal change disease represent frequent histological patterns of renal injury in patients with nephrotic syndrome. Few cases carrying NPHS2 gene variants have been described to date. Mutational analysis of the NPHS2 gene was performed in 50 Czech adult patients with histologically proved FSGS/MCD. The common p.P20L and p.R229Q polymorphisms of the NPHS2 ...
متن کاملPatients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the most intractable causes of ESRD in the first two decades of life. Mutations in the NPHS2 gene represent a frequent cause of SRNS, occurring in approximately 20 to 30% of spor...
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چکیده ندارد.
15 صفحه اولSerum 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...
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ژورنال
عنوان ژورنال: Revista dos Trabalhos de Iniciação Científica da UNICAMP
سال: 2019
ISSN: 2596-1969
DOI: 10.20396/revpibic262018682