Table 1 Patient's clinical and molecular characteristics.
From: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
Family ID | Position in the pedigree | Sex | Age (years) | Mutated Gene | Mutated nucleotide | Mutated aminoacid | CADD | Microscopic hematuria | Macroscopic hematuria | Proteinuria | Creatinine | eGFR | Hearing impairment | Visual impairment | Nephrotic Syndrome | Kidney Failure | Kidney Transplantation | Medications |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
5813/21 | III:2 | F | 64 | COL4A3 | c.765G>A | (p.(Thr255Thr)) | 25.2 | Yes | No | Yes | 0,90 mg/dL | 68,5 mL/min* | No | No | No | No | No | No |
472/23 | III:3 | F | 62 | Yes | No | Yes | 1,03 mg/dL | 57,4 mL/min | No | No | No | No | No | Ramipril 10mg, Dapaglifozin 10mg | ||||
6927/23 | III:4 | M | 59 | Yes | No | Yes (0,5mg/dL) | 0,88 mg/dL | 94 mL/min | Yes | No | No | No | No | Ramipril 2,5mg | ||||
6535/23 | IV:2 | M | 31 | Yes | No | No | Na | Na | No | No | No | No | No | No | ||||
6537/23 | IV:3 | F | 36 | Na | No | No | Na | Na | No | No | No | No | No | No | ||||
6539/23 | IV:4 | F | 32 | Yes | No | No | 0,64 mg/dL | 118,1 mL/min | No | No | No | No | No | No | ||||
6533/23 | IV:1 | M | 37 | / | / | / | / | No | No | No | 1,04 mg/dL | 91,3 mL/min | No | No | No | No | No | No |
6929/23 | IV:5 | M | 27 | No | No | No | 0,81 mg/dL | 121,8 mL/min | No | No | No | No | No | No |
