نتایج جستجو برای: congenital nephrotic syndrome
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BACKGROUND AND OBJECTIVES Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and th...
This is a rare renal disease characterised by steroidresistant nephrotic syndrome in the first years of life with rapid progression to end-stage renal failure. Its occurrence is usually sporadic, and it has been associated with a mutation in the Wilms tumour (WT1) suppressor gene. Recently new gene defects causing isolated diffuse mesangial sclerosis, such as LAMB2 and PLCE1 mutations, have bee...
BACKGROUND AND OBJECTIVES Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with w...
Background and objectives Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and th...
9 Review of the literature 11 1. Congenital nephrotic syndrome of the Finnish type (CNF, NPHS1) 11
Pertussis or whooping cough is a vaccine-preventable disease that still remains a serious infection in neonates and young infants. The disease is particularly severe in infants less than three months old, who are often infected by their parents. Congenital nephrotic syndrome is a rare entity presenting within the first three months. It encompasses a heterogeneous group of entities with genetic,...
INTRODUCTION Although the association of infection by toxoplasmosis with the development of nephrotic syndrome is uncommon, cases of this association have nevertheless been reported in the literature for more than two decades, not only for congenital toxoplasmosis, but also in acquired cases, and occasionally in immunocompetent patients. DEVELOPMENT A case is presented of an immunocompetent p...
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