Table 2 Clinical information of BOR with proteinuria reported in the literature
Year [Ref] | Age-Gender | Familial / Sporadic | Time to diagnosis (yrs) | Gene variant (EYA1) | Proteinuria | Hematuria | SCr | CCr/GFR | Imaging |
|---|---|---|---|---|---|---|---|---|---|
1982 [12] | 5-M | Familial | 5 | - | Slight | No | - | 69 mL/min/1.73m2 (Cin) | RD (L); RH (R) |
1982 [12] | 33-M | Familial | 33 | - | 0.5 g/d | - | 50 | - | RH (R) |
1984 [16] | 6-F | Familial | 6 | - | Moderate | - | - | decreased | RA (L); RH (R) |
1986 [17] | --M | Familial | - | - | No detail | - | - | ESKD | RH (R) |
1986 [17] | 19-M | Familial | - | - | No detail | - | - | ESKD | RA (L); RH (R) |
1988 [13] | 9-F | Familial | - | - | 34.2 mg/m2/h | No | 300 | - | RH/RD (L + R) |
1989 [18] | 39-M | Familial | 36 | - | 4.8 g/d | No | 1050 | 3 mL/min | RH/RD (L + R) |
1998 [19] | 44-M | Familial | 36 | - | 1.1 g/d | Yes | 168 | 40 mL/min | RH/RD (L + R) |
2008 [20] | 26-M | Familial | 26 | c.1376 + 2T > C, Het | 4+, ACR 4.9 | Yes | 1235 | - | RH/RD (L + R) |
2010 [21] | 7-F | Sporadic | 7 | a 17 kb deletion, Het | 0.23 g/d | No | 85 | 55 mL/min/1.73m2 | RH/RD (L + R) |
2011 [22] | 23-F | Sporadic | 18 | 1420-1421delCC, Het | 3 g/d | No | 141 | 42 mL/min/1.73m2 | RH/RD (L) |
2012 [22] | 21-F | Sporadic | - | c.880 C > T, Het | 2+ | - | 97 | 54 mL/min/1.73m2 | RH (R) |
2013 [7] | 27-M | Sporadic | 21 | c.1475 + 1G > C, Het | 2.5 g/d | No | 80 | 131 mL/min | RH (L) |
2013 [23] | 4(d)-F | Familial | 0 | - | 0.3 g/L | Yes (Mild) | 205 | 10 mL/min/1.73m2 | RH (L + R) |
2016 [9] | 16-M | Familial | 6 | c.1627 C > T, Het | 4+, 2.738 g/d | No | 633 | 12 mL/min/1.73m2 | RH (L + R) |
2018 [8] | 4-F | Sporadic | 3 | c.1381delA, Het | 2+, 0.44 g/d | No | 505 | < 15 mL/min/1.73m2 | RH (L) |