Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

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...

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...

Podocin Mutation in Steroid Resistant Nephrotic Syndrome

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...

R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome

Background. The polymorphism R229Q is one of the most commonly reported podocin sequence variations among steroid-resistant nephrotic syndromes (SRNS). Aim of the Study. We investigated the frequency and risk of this polymorphism among a group of Iraqi children with SRNS and steroid-sensitive nephrotic syndrome (SSNS). Patients and Methods. A prospective case control study which was conducted i...