Table 1.
Baseline characteristics including pathologic features of the sequenced cohort
| Characteristic | Percentage (%) of Available Data | No. of Patients |
|---|---|---|
| Sex | 193 | |
| Male | 56 | 109 |
| Female | 44 | 84 |
| Ethnicity | 193 | |
| European | 65 | 125 |
| African | 4 | 7 |
| East Asian | 12 | 24 |
| Admixed | 19 | 37 |
| Pathology where electron microscopy is available | 126 | |
| Glomerular basement membrane abnormalities | 30 | 37 |
| Podocyte effacement >50% | 73 | 91 |
| Patients on therapy | 154 | |
| Prednisolone alone | 23 | 35 |
| Other immunosuppression alone | 4 | 6 |
| Prednisolone and other immunosuppression | 43 | 66 |
| ACEi+ARB alone | 31 | 47 |
| Remission rate on steroid or immunosuppression throughout the course of the disease | 82 | |
| Partial remission | 45 | 37 |
| Complete remission | 29 | 24 |
| No remission | 26 | 21 |
| Patients with known status for ESKD | 147 | |
| Progression to ESKD | 49 | 72 |
| Kidney transplant (% of transplant in patients with ESKD) | 59 | 42 |
| Recurrence of disease after kidney transplant (within the first yr) | 10 | 4 |
| Mean age±SD (years) | No. of Patients | |
| Onset of kidney disease | 34±16 | 161 |
| ESKD | 47±17 | 70 |
A total of 193 individuals from 179 families had exome sequencing performed but data were not available for all participants. Number of individuals in which data are available or satisfying the criteria is indicated in the last column. ACEi, angiotensin converting enzyme inhibitors; ARB, angiotensin receptor blockers.