Table 4.
Phenotype information for 8 families with UMOD variants
| Family | Individual | Sex | Age at diagnosis | Age of ESRD | Hematuria | Proteinuria (ACR or mg/d) | SCr (mg/dl) | Working diagnosis | Biopsy findings c/w FSGS |
|---|---|---|---|---|---|---|---|---|---|
| FGCM | 111 | M | U | 58 | Neg | Pos (1100) | U | Hereditary GN | U |
| FGCM | 112 | M | 55 | 55 | Neg | Pos | U | ESRD NYD | U |
| FGCM | 113 | M | 25 | 40 | U | Pos | U | Hereditary GN | U |
| FGCM | 115 | F | 32 | 39 | Pos | Pos | 11.2 | ESRD NYD | U |
| FGCM | 117 | F | U | 50 | U | Pos (278) | 1.9 | Hereditary GN | Global and segmental sclerosis |
| FGCM | 118 | M | 34 | U | U | Pos | U | Hereditary GN | U |
| FGCM | 1141 | M | U | 57 | U | U | U | ESRD NYD | U |
| FGCM | 1151 | M | U | 36 | Neg | U | U | ESRD NYD | U |
| FGCO | 122 | F | 40 | 47 | U | U | U | ESRD from HTN | U |
| FGCO | 1111 | F | 41 | 42 | Neg | U | 1 | Hereditary GN | U |
| FGGR | 111 | M | 54 | 55 | Pos | Pos (130.7) | 1.6 | Hereditary GN | U |
| FGGR | 114 | M | 40 | 49 | Neg | Pos (84.5) | 1.5 | FSGS | FSGS |
| FGGR | 151 | M | 44 | 52 | Neg | Pos (>303) | 3.2 | FSGS | FSGS |
| FGGR | 152 | M | U | 50 | Neg | Pos (>629) | U | NS NYD | U |
| FGGR | 311 | M | 57 | N/A | Neg | U | 4 | Hereditary GN | U |
| FGDC | 111 | F | U | 45 | U | Pos | U | FSGS | FSGS |
| FGDC | 112 | F | 40 | 46 | Neg | Pos | 1.1 | FSGS | FSGS |
| FGIT | 1 | M | U | 45 | Neg | Neg | U | Hereditary GN | U |
| FGIT | 11 | F | 20 | 21 | Neg | Pos (175 mg/d) | 1.6 | Hereditary TIN | Effaced FPs |
| FGIT | 12 | M | 38 | N/A | Neg | Pos (165.5) | 2.4 | CKD NYD | None |
| FGIT | 21 | F | 37 | 68 | Neg | Pos (72) | 1.4 | Hereditary GN | U |
| FGIT | 22 | M | 36 | 45 | Neg | Neg | 1 | Hereditary GN | U |
| FGIT | 234 | F | 29 | 35 | U | Neg | 3.2 | HTN related | None |
| FGJD | 1 | F | U | 69 | U | U | U | HTN related | U |
| FGJD | 11 | M | 16 | 36 | Neg | Neg | 7.9 | FSGS | FSGSa |
| FGJF | 3 | F | U | 40 | Neg | Neg | 1.9 | FSGS | U |
| FGJF | 11 | F | U | 51 | Neg | Neg | 1.7 | FSGS | FSGS |
| FGJF | 13 | F | U | 40 | Neg | Neg | U | FSGS | None |
| FGJF | 32 | F | 34 | 36 | Neg | Pos (700 mg/d) | 2.5 | FSGS | FSGS |
| FGLV | 115 | F | U | 60 | Pos | Pos (298.8) | 3.5 | Hereditary GN | U |
| FGLV | 116 | F | U | 51 | Neg | Neg | 1.9 | ESRD NYD | U |
| FGLV | 1121 | M | 47 | 52 | Neg | Pos | U | ESRD NYD | U |
| FGLV | 1133 | M | 37 | 42 | Pos | Neg | 2.4 | ESRD NYD | U |
| FGLV | 1153 | F | U | 40 | Neg | Pos (30.9) | 1.2 | ESRD NYD | U |
ACR, albumin-to-creatinine ratio in mg/g; CKD, chronic kidney disease; c/w, consistent with; ESRD, end-stage renal disease; F, female; FPs, foot processes; FSGS, focal segmental glomerulosclerosis; GN, glomerulonephritis; IgAN, IgA nephropathy; M, male; Neg, negative; none, no findings consistent with FSGS; NS, nephrotic syndrome; NYD, not yet determined; Pos, positive; SCr, serum creatinine; TIN, tubulointerstitial nephritis; U, unknown.
a
Insufficient material for native kidneys; based on biopsies of 2 allografts showing FSGS (suspected FSGS recurrence).