Table 1.

Clinical features in five FSGS patients with mutations of the NPHS2 gene and altered Palb serum levels

PatientGenderAge(yr)Age atOnset ofProteinuriaTherapyaProteinuria/day at PresentationProteinuria/day after TherapyDialysis (Age)Transplant (Age)Posttransplant OutcomeNPH2mutation (nt change)
a Ste, steroid; Cyc, cyclophosphamide; Csa, cyclosporin.
1F108.0Ste/Cyc/Csa6 to 7unchanged538G>A / 413G>A
2M201.5Ste6 to 7unchanged12 yr15 yrgood419delG / 419delG
3M1914.0Ste/Csa5 to 6unchanged17 yr19 yrgood467/8insT/ 538G>A
4M121.0Ste/Cyc/Csa8 to 9unchanged7 yr9 yrProteinuria after 10 d413G>A / 413G>A
5M102.0Ste/Cyc8 to 9unchanged4 yr4.5 yrProteinuria after 300 d413G>A / 413G>A