Table 1.
Clinical characteristics at the time of diagnosis of APRT deficiency
| Patient | Sex | History of kidney stones | Age at diagnosis (yrs) | Diagnostic delay (yrs) | Kidney function (eGFR, mL/min/1.73m2) | Age at kidney biopsy (yrs) | Original native kidney biopsy findings |
|---|---|---|---|---|---|---|---|
| 1 | M | No | 62 | 1.1 | ESKD | 62 | DHA crystal nephropathy, global sclerosis (21 of 45 glomeruli); severe, interstitial fibrosis and arteriosclerosis |
| 2 | F | No | 43 | 5.1 | ESKD | 38 | Crystals, thought to be consistent with primary hyperoxaluria |
| 3 | M | Yes | 43 | 11.1 | ESKD | NA | |
| 4 | F | Yes | 68 | 47.9 | ESKD | NA | |
| 5 | F | No | 52 | 7.5 | ESKD | NA | |
| 6 | F | No | 52 | 6.0 | ESKD | 45 | Interstitial inflammation with inflammatory infiltrate; refractory golden-brown crystalline material seen |
| 7 | F | Yes | 59 | 24.0 | ESKD | NA | |
| 8 | M | Yes | 12 | 10.4 | ESKD | NA | |
| 9 | F | Yes | 49 | 7.8 | 9 | 42 | Tubulointerstitial fibrosis; presumed calcium oxalate crystal deposits |
| 10 | M | Yes | 42 | 39.2 | 17 | 42 | DHA crystals; interstitial inflammation |
| 11 | F | Yes | 45 | 1.4 | ESKD | NA | |
| 12 | F | No | 21 | 0 | ESKD | 21 | Tubulointerstitial nephritis with extensive calcium oxalate deposits |
| 13 | M | No | 40 | 4.7 | ESKD | 35 | Chronic interstitial nephritis; crystals seen but not identified |
| 14 | F | Yes | 24 | 4.0 | 54 | NA | |
| 15 | M | Yes | 50 | 20.0 | ESKD | 50 | Small number of scattered tubules contain intraluminal polarizable crystals believed to be calcium oxalate |
| 16 | M | No | 43 | 0.2 | ESKD | 42 | 2,8-DHA crystals with advanced glomerulosclerosis, tubular atrophy and interstitial fibrosis |
| 17 | M | Yes | 52 | 20.0 | 6 | NA |
Abbreviations: NA, not available; ESKD, end-stage kidney disease; DHA, 2,8-dihydroxyadenine.