Table 1.
Clinical and histological data of affected family members of the three villages
| Pedigree no. | Diagnosis | Renal biopsy: immunofluorescence | Age at diagnosis/sex | Clinical onset | SCr (mg/dl) at diagnosis/follow-up | Follow-up (years) | |
|---|---|---|---|---|---|---|---|
| San Colombano, Pedigree no. 1 | |||||||
| 1 | IX-23 | Clinical GN | ND | ND/M | / | / | / |
| 2 | XI-15 | Clinical GN | ND | 45/M | MH, prot | 3.0/TX | 20 |
| 3 | XI-20 | Clinical GN | ND | 63/M | mH, prot | 1.4/1.1 | 13 |
| 4 | XI-21 | Clinical GN | ND | 52/M | mH, prot | 1.5/HD | 2 |
| 5 | XI-37 | Clinical GN | ND | 75/F | mH, prot | 5.0/PD | 6 |
| 6 | XII-28 | Clinical GN | ND | 40/F | mH, prot | 2.0/TX | 17 |
| 7 | XI-35 | Clinical GN | ND | 40/M | mH, prot | 2.5/TX | 15 |
| 8 | XIII-17 | Clinical GN | ND | 57/M | mH, prot | 1.2/2.8 | 5 |
| 9 | XI-38a | IgAN | IgA | 50/M | mH, prot | 2.0/HD | 15 |
| 10 | XIII-4 | IgAN | IgA | 35/M | MH | 1.1/1.0 | 15 |
| 11 | XII-1 | IgAN | IgA, C3 | 50/M | mH, prot | 1.2/1.4 | 8 |
| 12 | XIV-1 | IgAN | IgA, IgM, C3 | 19/M | MH | 2.0/1.6 | 5 |
| 13 | XIII-6 | IgAN | IgA | 25/M | MH | 1.1/1.0 | 20 |
| 14 | XI-18 | IgAN | IgA | 50/M | mH, prot | 1.6/HD | 20 |
| 15 | XII-22a | Mes. Prol. GN | C3 | 50/M | mH, prot | 1.6/6.0 | 10 |
| 16 | XII-34 | Mes. Prol. GN | IgM, IgG, C3 | 21/F | mH | 0.8/0.8 | 4 |
| 17 | XII-15 | Mes. Prol. GN | IgM | 45/M | prot | 1.1/1.0 | 10 |
| 18 | XI-46 | Mes. Prol. GN | IgM IgG C3 | 60/M | MH | 2.0/HD | 10 |
| 19 | XI-33 | Mes. Prol. GN | C3 | 77/F | mH | 0.9/0.9 | 4 |
| 20 | XIII-14 | Mes. Prol. GN | IgM C3 | 42/M | prot | 1.1/1.3 | 9 |
| 21 | XIII-9 | Membranous N | IgG C3 | 40/M | N S | 1.0/1.1 | 13 |
| 22 | XII-25 | Membranous N | IgG C3 | 35/M | N S | 1.0/1.0 | 10 |
| Collio, Pedigree no. 2 | |||||||
| 1 | VIII-1 | Clinical GN | ND | 60/M | mH, prot | 2.0/HD | 10 |
| 2 | VIII-8 | Clinical GN | ND | 70/M | mH, prot | 1.2/1.2 | 10 |
| 3 | VIII-21 | Clinical GN | ND | 64/M | mH, prot | 1.2/1.2 | 4 |
| 4 | VIII-25 | Clinical GN | ND | 50/M | mH, prot | 5.0/HD | 15 |
| 5 | VIII-15a | IgAN | IgA | 50/M | mH, prot | 2.0/HD | 15 |
| 6 | IX-1 | IgAN | IgA, IgM IgG, C3 | 40/M | mH, prot | 1.0/1.0 | 13 |
| 7 | VIII-12a | Mes. Prol. GN | C3 | 50/M | mH, prot | 1.6/6.0 | 10 |
| 8 | IX-18 | FSGS | IgM C3 | 40/F | NS | 1.3/PD | 13 |
| Bovegno, Pedigree no. 3 | |||||||
| 1 | X-7 | Clinical GN | ND | 42/F | mH, prot | 3/TX | 17 |
| 2 | X-10 | Clinical GN | ND | 45/M | mH, prot | 2.0/HD | 15 |
| 3 | X-27 | Clinical GN | ND | 64/M | Prot | 1.5/2.0 | 5 |
| 4 | XI-15 | Clinical GN | ND | 45/F | Prot | 2.0/TX | 10 |
| 5 | XI-21 | Clinical GN | ND | 65/M | mH, prot | 6.0/HD | 10 |
| 6 | XI-27 | Clinical GN | ND | 60/M | mH, prot | 5.0/HD | 12 |
| 7 | X-8 | IgAN | IgA IgM C3 | 55/M | mH, prot | 1.1/1.0 | 10 |
| 8 | XI-28 | IgAN | IgA IgM C3 | 50/M | mH, prot | 1.5/2.0 | 9 |
| 9 | X-31 | IgAN | IgA IgG IgM C3 | 51/M | mH, prot | 1.4/1.2 | 5 |
| 10 | XII-1 | IgAN | IgA IgM | 38/M | mH, prot | 1.3/1.3 | 8 |
| 11 | XI-8 | Mes. Prol. GN | IgM C3 | 60/M | prot | 1.6/1.8 | 10 |
| 12 | XII-3 | Mes. Prol. GN | IgM | 28/M | prot | 1.0/1.4 | 8 |
| 13 | X-4 | FSGS | IgM, C3 | 50/M | NS | 1.1/1.0 | 10 |
| 14 | X-6 | FSGS | IgM | 45/M | NS | 1.0/1.0 | 13 |
| 15 | XII-10 | FSGS | IgM, IgG | 42/F | NS | 0.8/0.9 | 15 |
a
Patients members of both San Colombano and Collio pedigrees.
Clinical GN=clinical glomerulonephritis; F=female; FSGS=focal segmental glomerular sclerosis; HD=hemodyalisis; IgAN=IgA Nephropathy; M=male; Mes. Prol. GN=mesangial proliferative glomerulonephritis; Membranous N=membranous nephropathy; MH=macroscopic hematuria; mH=microscopic hematuria; ND=not done; NS=nephrotic syndrome; PD=peritoneal dyalisis; prot=proteinuria; sCr=serum creatinine; TX=renal transplantation.