Table 2. Clinical data and NPHS2 mutational analysis data for 190 patients with SRNS from 165 different families and 124 patients with SSNS from 120 different familiesa

GroupNo. of Families (% of Total Families)No. of Patients (Including Siblings)Median Age of Onset of NS (yr)Biopsy FSGS/MCNS/Other/ND (%)CR/PR/NR after Treatment with CP/CsA (%)ESRDMedian Age at ESRD (yr)ESRD (yr after Onset)Relapse of FSGS after KTX
a CNS, congenital NS; MCNS, minimal-change NS; KTX, kidney transplantation; CR, complete response; PR, partial response; NR, no response; NA, not applicable.
b Eleven of 43 families presented with congenital NS.
c Fourteen of 56 patients presented with congenital NS.
d Median was 3.4 yr after exclusion of the 14 patients with congenital NS.
e Median was 10.0 yr after exclusion of the patients with congenital NS and ESRD.
f Six of 118 families presented with congenital NS, of which five showed mutations in NPHS1 on both alleles.
g Eight of 129 patients presented with congenital NS, of whom seven showed mutations in NPHS1 on both alleles.
h Median was 5.0 yr after exclusion of the eight patients with congenital NS.
i Median was 11.5 yr after exclusion of the patients with congenital NS and ESRD.
j Seventeen of 165 families presented with congenital NS.
k Twenty-one of 190 patients presented with congenital NS.
l Median was 4.0 yr after substraction of the 21 patients with congenital NS.
m Median was 10.7 yr after substraction of the CNS patients with congenital NS and ESRD.
n At least seven patients developed secondary steroid resistance in the clinical course of SSNS.
o At least one patient developed secondary steroid resistance in the clinical course of SSNS.
SRNS
    mutations in both alleles43/165 (26%)b56/190c2.0d (n = 54)37/8/5/6 (66/14/9/11)0/5/24 (0/17/83)33/56 (59%)10.0e6.02/24 (8%)
    absence of mutations118/165 (72%)f129/190g4.8h (n = 111)80/20/10/19 (62/16/8/14)12/14/38 (19/22/59)34/129 (26%)10.5i3.07/20 (35%)
    single heterozygous sequence variants4/165 (2%)5/1905.5 (n = 4)2/2/0/1 (40/40/0/20)3/1/0 (75/25/0)1/5 (20%)12.05.00/0 (0%)
    total of families/patients with SRNS165j190k3.5l (n = 169)115/34/14/27 (61/18/7/14)13/17/56 (15/20/65)68/190 (36%)10.1m5.28/44 (18%)
SSNS
    mutations in both alleles0/120 (0%)0/124NANANANANANANA
    absence of mutations116/120 (97%)n120/124n4.4 (n = 99)25/20/7/68 (21/17/6/56)NA2/120NANANA
    single heterozygous sequence variants4/120 (3%)o4/124o3.2 (n = 3)1/2/0/1 (25/50/0/25)NANANANANA
    total of families/patients with SSNS1201244.4 (n = 102)26/22/7/69 (21/18/5/56)NA2/124NANANA