Article
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
Clinical journal of the American Society of Nephrology : CJASN - 1 Jun 2009
Caridi Gianluca, Gigante Maddalena, Ravani Pietro, Trivelli Antonella, Barbano Giancarlo, Scolari Francesco, Dagnino Monica, Murer Luisa, Murtas Corrado, Edefonti Alberto, Allegri Landino, Amore Alessandro, Coppo Rosanna, Emma Francesco, De Palo Tommaso, Penza Rosa, Gesualdo Loreto, Ghiggeri Gian Marco
Abstract excerpt
BACKGROUND AND OBJECTIVES: Mutations in nephrin (NPHS1) and podocin (NPHS2) genes represent a major cause of idiopathic nephrotic syndrome (NS) in children. It is not yet clear whether the presence of a single mutation acts as a modifier of the clinical course of NS. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We reviewed the clinical features of 40 patients with NS associated with heterozygous mutations or...
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