Table 2.
Phenotypic characterization of the patients according to the presence of pathogenic mutation
| Phenotype | Pathogenic mutation n = 7 | No pathogenic mutation n = 11 | P value |
|---|---|---|---|
| Clinical findings at renal biopsy | |||
| Age, years | 26 (22–35) | 63 (55–77) | 0.01 |
| Male | 5 (71) | 1 (9) | 0.01 |
| Hypertension | 2 (29) | 9 (82) | 0.049 |
| Proteinuria | 5 (71) | 9 (82) | 1.00 |
| eGFR, ml/min per 1.73 m2 | 28.8 (5.2–39.5) | 15.2 (10.4–25.9) | 0.53 |
| Liver cyst | 1 (14) | 1 (9) | 1.00 |
| Renal cyst | 3 (43) | 6 (55) | 1.00 |
| Pathologic findings | |||
| Tubule with thick TBM duplication, /10 counted tubulesa |
4.5 (1.5–5.4) | 0 (0–0.4) | <0.001 |
| Tubular diverticulum | 8 (5–9) | 5.5 (5–7) | 0.22 |
| Tubular floretb | 1 (0.5–2.5) | 2.5 (1–3.5) | 0.12 |
| Cystc | 0 (0–0) | 1 (0–1.5) | 0.15 |
| Total counted tubulesd | 9 (6–11.5) | 9.5 (8.5–11) | 0.56 |
eGFR, estimated glomerular filtration rate; TBM, tubular basement membrane.
Values are reported as median (25th–75th percentile) or numbers (%).
a
Number of tubules with thick TBM duplication divided by the total number of counted tubules and then multiplied by 10.
b
Branching in at least 4 directions.
c
Diameter >200 μm.
d
Sum of the number of tubular diverticula, tubular florets, and cysts.