Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome
نویسندگان
چکیده
منابع مشابه
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
The aim of our study was to examine NPHS1, NPHS2, WT1 and LAMB2 mutations, previously reported in two thirds of patients with nephrotic syndrome with onset before the age of one year old. Genomic DNA samples from Polish children (n=33) with Steroid-Resistant Nephrotic Syndrome (SRNS) due to focal segmental glomerulosclerosis (FSGS), manifesting before the age of 13 years old, underwent retrospe...
متن کاملGenotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations. Genotype-phenotype correlations are not well understood in non-Finnish patients. We evaluated the clinical presenta...
متن کاملGenetic basis of nephrotic syndrome--review.
Nephrotic syndrome (NS) is one of the most frequent syndromes characterized namely by heavy proteinuria. Majority of NS occurs as a sporadic form, the incidence of familial cases is from 3 to 5%. Seven genes have been recognized till present, which mutations are responsible for severe forms of NS: NPHS1, NPHS2, ACTN4, CD2AP and WT1, TRPC6, LAMB2. Proteins encoded by these genes (nephrin, podoci...
متن کاملNPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.
BACKGROUND AND METHODS The NPHS1gene was analysed in different five Japanese patients with congenital nephrotic syndrome (CNS) from the patients in a previous report (Sako M, Nakanishi K, Obana M et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int 2005; 67: 1248-1255) that suggested that the mutation of NPHS1 was not a major cause ...
متن کاملExamine of Thyroid Function in Pediatric Nephrotic Syndrome; Tehran-Iran
Introduction In children with nephrotic syndrome, it is probable to determine a hypothyroid state because of thyroxine (T4), tri-iodothyronine (T3) and thyroid-binding globulin loss in presence of proteinuria. Objectives: To examine thyroid function in pediatric cases of nephrotic syndrome. Methods: In a cross-sectional study, from march 2010 to march 2012, thyroid function tests were performed...
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ژورنال
عنوان ژورنال: Frontiers in Genetics
سال: 2018
ISSN: 1664-8021
DOI: 10.3389/fgene.2018.00214