title: WT1 mutation-associated nephropathy: a single-center experience .
abstract: This study explored Wilms' tumor 1 (WT1) mutations in children with, or suspected of having, steroid-resistant nephrotic syndrome (SRNS), referred to or treated in our hospital in the past 6 years as well as the correlation between genotype and phenotype inWT1mutation-associated nephropathy in Chinese patients. In total, 76 patients participated in the study.WT1mutations were identified in 15 patients, 5 of whom harbored splice-site mutations in intron 9. Four of these 5 patients exhibited early onset of nephropathy and rapid deterioration of renal function. Missense mutations were detected in 8 patients, 4 of whom harbored hot-site mutations and had early-onset proteinuria. Of these 4 patients, rapid progression to end-stage renal disease was only observed in 1. Nonsense mutations were identified in 2 patients; both had a large number of immature glomeruli in the kidney cortex. Calcineurin inhibitors (CNI) were administered in 8 patients. Two patients with missense mutations and 1 patient with a nonsense mutation achieved complete remission. Two patients with missense mutations and 2 with splice-site mutations showed an improvement. One patient with a splice-site mutation showed no changes. In conclusion, a highWT1mutation rate was observed in this group of SRNS patients. Patients with splice-site mutations experienced a rapid disease progression, and patients harboring nonsense mutations showed a prominent glomerular developmental delay. CNI therapy was effective in patients withWT1missense mutations and nonsense mutations. .
authors.forename: Zhihui
authors.initials: Z
authors.lastname: Yue
authors.forename: Haiyan
authors.initials: H
authors.lastname: Wang
authors.forename: Hongrong
authors.initials: H
authors.lastname: Lin
authors.forename: Juan
authors.initials: J
authors.lastname: Yang
authors.forename: Ting
authors.initials: T
authors.lastname: Liu
authors.forename: Yulin
authors.initials: Y
authors.lastname: Liu
authors.forename: Huamu
authors.initials: H
authors.lastname: Chen
authors.forename: Liangzhong
authors.initials: L
authors.lastname: Sun
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000235:genetics*; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D025721:WT1 Proteins