Table 2. Renal biopsy findings in 45 individuals from eight families with renal limited LMX1B mutations.
Renal biopsy findings | N (%) | Mutations | References |
---|---|---|---|
FSGS/FGGS | 14 (31.1) | R246Q | 6, 9, and present study |
None specific (CKD) | 4 (8.9) | R249Q | 6 and 7 |
MCD | 2 (4.4) | R246P | 6 |
Nail patellar like renal disease | 1 (2.2) | R246Q | 8 |
Mesangial proliferative GN/C1q nephropathy | 2 (4.4) | R246Q, R249Q | 7, and present study |
Membranous GN | 1(2.2) | R246Q | Present study |
Immune complex GN | 1 (2.2) | R246Q | Present study |
Familial nephropathy | 1 (2.2) | R246Q | Present study |
Unknown | 19 (42.2) | R246Q, R249Q | 6, 7, and, present study |
GN: Glomerulonephritis, MCD: Minimal change disease.