Table 1. Clinical and pathological features of all the patients.
IID | Sex | Age/AO | URBC (104/ml) |
Pro (g/24h) |
Scr (mg/dl) |
HT | EE | RB | FH | ||
---|---|---|---|---|---|---|---|---|---|---|---|
LM | EM | α3,α5 | |||||||||
1 | M | 25/24.5 | 138 | 6.19 | 2.32 | SH | n.a. | FSGS | L | A,A | P |
2 | M | 15/14 | 56–225 | 14.25 | 0.64 | Nor | Nor | FSGS | L | M,M | P |
3 | M | 9/3 | 1800 | 1.14 | 0.60 | SH | n.a. | FSGS | L | A,A | P |
4 | M | 25/25 | 140 | 5.78 | 2.64 | SH | CC | FSGS | L | M,A | P |
5 | M | 18/18 | 120 | 5.46 | 1.99 | SH | n.a. | FSGS | L | M,A | P, C |
6 | M | 21/21 | 46 | 4.80 | 2.43 | SH | Nor | FSGS | L | A,A | P |
7 | M | 23/23 | 46 | 1.62–1.39 | 1.07 | Nor | Nor | FSGS | L | Nor,M | P |
8 | M | 13/13 | 110 | 1.12 | 0.62 | SH | Nor | FSGS | L | M,M | P, C |
9 | M | 15/2 | 120 | 6.88 | 0.89 | SH | Nor | FSGS | L | A,A | P |
10 | M | 12/12 | 15 | 1.75 | 0.34 | Nor | Nor | FSGS | L | A,A | N |
11 | F | 13/5 | 640–1200 | 0.43–1.01 | 0.54 | Nor | Nor | FSGS | L | M,M | P |
12 | M | 23/23 | 85–226 | 2.32 | 0.95 | Nor | Nor | FSGS | L | Nor,A | N |
13 | M | 14/11 | 260 | 1.79 | 0.69 | Nor | Nor | FSGS | L | A,A | P |
14 | M | 37/26 | 80 | 1.13 | 1.25 | SH | n.a | FSGS | L | Nor,M | P |
15 | M | 14/14 | 490 | 11.16 | 2.13 | SH | Iso | FSGS | L | A,A | P |
16 | M | 36/32 | 16 | 0.71 | 1.30 | Nor | Nor | FSGS | L | A,A | N |
17 | M | 22/16 | 42 | 1.22 | 0.79 | n.a. | Nor | FSGS | L | M,M | N |
18 | M | 17/10 | 77 | 4.36 | 1.22 | SH | Nor | FSGS | L | A,A | P |
19 | F | 23/2 | 100 | 1.22 | 0.62 | n.a. | n.a. | FSGS | L | Nor,Nor | P |
20 | M | 14/10 | 300 | 1.71 | 0.84 | SH | CI | FSGS | L | A,A | N |
IID, individual ID; AO, age at onset; URBC, urine red blood cell (104/ml); Pro, proteinuria(g/24h); nephritic proteinuria (defined as 24-h urine protein excretion >3.5g); Scr, serum creatinine(mg/dL); normal renal function (defined as SCr<1.24mg/dl); RB, renal biopsy; LM, light microscope; EM, electron microscope; α3,α5, α3,α5 chains in GBM; A, absence; M, mosaic; HT, hearing test; L, lamellation; SH, sensorineural hearing loss; Nor, normal; n.a., not available; EE, eye examination; CC, conjunctival congestion; Iso, Isoametropic; CI, corneal injury; FH, family history; P, positive; N, negative; C: Consanguineous.