Table 1.

Patient characteristics (n = 162)

CharacteristicAll Cohort, n (%)a,bFamilial, n (%)a,bSporadic Cases, n (%)a,b
Familial CasesWith MutationsWithout Mutations
No. of cases16278285084
No. of families1385494584
Ethnic origin
    n136 families52 families9 families43 families84
    North Africa5 (3.7)3 (5.8)1 (11.1)2 (4.7)2 (2.4)
    Middle-East2 (1.5)1 (1.9)1 (11.1)0 (0.0)1 (1.2)
    Europe115 (84.5)46 (88.5)7 (77.8)39 (90.7)69 (82.1)
    Other14 (10.3)2 (3.8)0 (0.0)2 (4.7)12 (14.3)
Renal histologic lesions
    n124 families45 families9 families36 families79
    FSGS90 (72.6)36 (80.0)9 (100)27 (75.0)54 (68.4)
    MGC32 (25.8)7 (15.6)0 (0)7 (19.4)25 (31.6)
    terminal kidney2 (1.6)2 (4.4)0 (0)2 (5.6)0 (0)
Age at onset of proteinuria (years)
    n1305018c3280
    median (range)19.0 (0.5 to 55.0)20.5 (2.0 to 52.0)27.0 (5.0 to 44.0)15.5 (2.0 to 52.0)19.5 (0.5 to 55.0)
    mean ± SD20.6 ± 12.121.6 ± 13.626.0 ± 10.619.1 ± 14.620.2 ± 11.0
ESKD
    n15571264584
    no. of patients reaching ESKD80 (49.4)39 (54.9)18 (69.2)21 (46.7)41 (48.8)
Age at onset of ESKD (years)
    n7534161841
    median (range)35.0 (7.0 to 73.0)33.0 (7.0 to 73.0)36.0 (20.0 to 70.0)31.5 (7.0 to 73.0)35.0 (13.0 to 62.0)
    mean ± SD36.4 ± 12.935.6 ± 14.436.1 ± 11.235.1 ± 17.137.0 ± 11.7
  • MGC, minimal glomerular changes.

  • aThe number of available data are shown as n.

  • bThe denominator used to calculate percentages is the number of available data.

  • cAmong the nine families with INF2 mutations, genetic testing was performed for seven asymptomatic relatives (from three families) and revealed an INF2 mutation in two cases; one was free of renal manifestations at 26 years of age, whereas the other presented microalbuminuria with normal renal function and BP at 66 years of age. Only symptomatic patients are included in the cohort.