NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence

NPHS2 Gene Mutation and Polymorphisms in Indonesian Children with Steroid-Resistant Nephrotic Syndrome

Objective: Although several NPHS2 gene mutations and polymorphisms were described and associated with clinical manifestation of steroid-resistant nephrotic syndrome (SRNS), the occurrence of these genetic abnormalities or variants appeared to be influenced by race and ethnic group. We have investigated probable mutations and variants in NPHS2 gene involved in SRNS and their association with cli...

NPHS2 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...

Podocin Mutation in Steroid Resistant Nephrotic Syndrome

Clinical 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...

Steroid Resistant Nephrotic Syndrome

Minimal Change disease (MCD) is the most common cause of Nephrotic Syndrome (NS) in children accounting for 70 to 90% of cases under the age of 10 years and 50% in older children.In adults MCD is found in 10 to 15% of cases with primary nephrotic syndrome. Most patients with MCD remit with steroids.1 Remission is defined as absence of proteinuria (urine albumin nil or trace on 3 conservative da...