Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
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چکیده
منابع مشابه
Serum 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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BACKGROUND Plasma creatinine concentration and creatinine-based equations are most commonly used as markers of glomerular filtration rate (GFR). The abbreviated MDRD formula is considered the best available formula. Altered renal handling of creatinine, which may occur in the nephrotic syndrome, will invalidate creatinine-based formulas. We have evaluated the abbreviated MDRD formula in a large...
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تمایل به ارزیابی جایگزین و تعویض آن با آزمون سنتی مداد و کاغذ در سالهای اخیر افزایش یافته است. اکثر زبان آموزان در کلاس های زبان از نمره نهایی که استاد تعیین میکند ناراضی اند. این تحقیق جهت بررسی ارزیابی در کلاس های زبان انگلیسی به هدف رضایتمندی زبان آموزان از نمره هایشان انجام گرفته است که در آن نمرات ارائه شده توسط سه گروه ارزیاب (ارزیابی خود دانشجو، همسالان واستاد) در مهارت های تولید (تکل...
15 صفحه اولNovel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset and progresses to end-stage renal disease. Recently, several genes associated with CNS have been identified, including NPHS1 and NPHS2. Mutations in the NPHS1 gene have been identified in patients with CNS in Finland with relatively high ...
متن کاملMutations in NPHS1 in a Chinese child with congenital nephrotic syndrome.
Since the identification of the NPHS1 gene, which encodes nephrin, various investigators have demonstrated that the NPHS1 mutation is a frequent cause of congenital nephrotic syndrome (CNS); it is found in 98% of Finnish children with this syndrome and in 39-80% of non-Finnish cases. In China, compound heterozygous mutations in the NPHS1 gene have been identified in two Chinese families w...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2002
ISSN: 1460-2083
DOI: 10.1093/hmg/11.4.379