Article
Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.
Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jan 2018
Thomas Manal Micheal, Abdel-Hamid Mohamed S, Mahfouz Nermine Nabil, Ghobrial Emad Emil
Abstract excerpt
BACKGROUND/PURPOSE: Nephrotic syndrome is the commonest etiology of proteinuria in children. Steroid-resistant nephrotic syndrome (SRNS) is defined by resistance to standard steroid therapy, and it continues to be one of the most intractable etiologies of renal failure. Molecular studies discovered specialized molecules in podocytes that play a role in proteinuria. Mutations in NPHS2 that encodes for podocin...
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