Table 1.
Genetic, clinical, biologic, and histologic description of 4 COL4A-cIgAN patients at onset and last follow-upa
| Onset | Patient 1 | Patient 2 | Patient 3 | Patient 4 |
|---|---|---|---|---|
| Gene p.hgvs | COL4A3, p.G1277S, p.F1504L | COL4A3 p.G1277S | COL4A3 p.L1474P | COL4A3 p.F1504L |
| Sex | Male | Female | Female | Female |
| Familial history | No | Grandfather ESRD | No | Father ESRD |
| Age (years) | 8 | 6 | 14 | 10 |
| Albumin (g/L) | 28 | 36.4 | 15.10 | 29 |
| Proteinuria (g/mmol) | 0.40 | 0.021 | 1.57 | 0.644 |
| eGFR (ml/min per 1.73 m2) | 35.02 | 119.08 | 30.00 | 99.40 |
| Hematuria (cpm/ml) | 106 | 104 | 106 | 106 |
| Oxford classification | M1,E1,S0,T0,C1 | M1,E0,S0,T0,C0 | M1,E1,S1,T0,C2 | M1,E1,S1,T0,C2 |
| Numbers of biopsies | 2 | 1 | 3 | 3 |
| Total treatment | RASB, steroid + i.v. methylprednisolone + i.v. cyclophosphamide | RASB | RASB, steroid + i.v. methylprednisolone + i.v. cyclophosphamide + 10 plasma exchanges | RASB, steroid + i.v. methylprednisolone + i.v. cyclophosphamide |
| Last follow-up before kidney transplantation | ||||
| Follow-up (years) | 8.91 | 5 | 7 | 4 |
| Albumin (g/L) | 41.4 | 49.4 | 43.5 | 36 |
| Proteinuria (g/mmol) | 0.069 | 0.003 | 0.23 | 0.13 |
| eGFR (ml/min per 1.73 m2) | 50 | 100 | 30 | 78 |
| Hematuria (cpm/ml) | <1000 | <1000 | 10,000 | 500,000 |
| Kidney transplantation | No | No | Yes, IgAN recurrence treated | no |
C1, presence of extracapillary proliferation; COL4A3/4, collagen type 4 alpha 3/4; E1, presence of endocapillary hypercellularity; eGFR, estimated glomerular filtration rate; ESRD, end-stage renal disease; IV, intravenous; M1, presence of mesangial hypercellularity; RASB, renin‒angiotensin system blockade; S1, presence of segmental glomerulosclerosis or adhesion; T1, presence of tubular atrophy/interstitial fibrosis.
a
Gene description of variants according to their p.hgvs for NP_000082.2.