Table 1 Clinical characteristics of families having XPO5 variant
From: Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis
Family ID | Individual ID | Affected | Sex | Age (Years) | Age of onset (years) | KB | Hematuria | UP (g/24 h or qualitative) | Scr (μmol/L) | eGFR (ml/min/1.73m2) | BP (mmHg) | UA (μmol/L) | ACR (mg/mmol) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FS-133 | III:2 | 2 | M | 42 | 23 | FSGS | Negative | 6.9 | 126 | 60.2 | 147/90 | 401 | 457.33 |
FS-133 | II:1 | 0 | M | 60 | – | – | 2 + | – | 55 | 107.7 | – | 297 | < 2.5 |
FS-133 | II:2 | 1 | M | 51 | – | – | Negative | – | 79 | 98.8 | – | – | – |
FS-133 | II:3 | 2 | M | 63 | 56 | – | 1 + | 3 + | 138 | 46.5 | – | 611 | 74.03 |
FS-133 | II:4 | 1 | F | 64 | – | – | Negative | – | 74 | 73.8 | – | 265 | 3.01 |
FS-133 | III:3 | 2 | F | 37 | 37 | – | Negative | – | 69 | 97 | – | 225 | 12.61 |
CKD-05 | II:3 | 2 | F | 24 | 24 | FGGS | 2 + | 0.179 | 332 | 15.9 | 110/70 | 512 | – |
CKD-05 | I:1 | 2 | M | 60 | 60 | – | Negative | Negative | 186 | 33.1 | 130/80 | 446 | – |
CKD-05 | I:2 | 1 | F | 59 | – | – | Negative | Negative | 56 | 98 | – | 351 | – |
CKD-05 | II:2 | 0 | F | 32 | – | – | 3 ~ 7/HP | Negative | 68 | 102.3 | – | 377 | – |
CKD-05 | III:2 | 2 | M | Died of ESRD at 20 | 20 | – | – | – | – | – | – | – | – |