Table 2 Clinical and genetic evaluation of family members
Patient code | Age on the day (years) | Gender | Number of cysts | GFR (mL/min/1.73Â m2) | ESRD onset (years) | htTKV (cc/m) | Renal transplant | Mutation | Variant | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
Kidneys | Liver | Pancreas | |||||||||
I-2 | Deceased | F | >40 | 0 | 0 | - | 58 | - | Yes | Q2243X | - |
II-2 | 57 | F | >40 | 0 | 0 | - | 47 | - | Yes | Q2243X | - |
II-3 | 58 | M | 7 | 0 | 0 | 94 | - | 312.5 | No | - | H1769Y |
II-4 | 52 | F | >40 | 0 | 0 | 25 | - | 1742.1 | No | Q2243X | - |
II-8 | 56 | M | >40 | 0 | 0 | - | 45 | - | Yes | Q2243X | - |
II-9 | 58 | F | >40 | 0 | 0 | - | 58 | - | Yes | Q2243X | - |
III-2 | 27 | M | >40 | 0 | 0 | 85 | - | 865.4 | No | Q2243X | - |
III-3 | 23 | M | 11 | 0 | 0 | 109 | - | 359.2 | No | Q2243X | - |
III-6 | 30 | M | >40 | 0 | 0 | 6 | 29 | 1362.6 | No | Q2243X | H1769Y |
III-7 | 25 | M | >40 | 0 | 2 | 91 | - | 1344.1 | No | Q2243X | H1769Y |
III-13 | 21 | M | 23 | 0 | 0 | 109 | - | 491.7 | No | Q2243X | - |
III-14 | 17 | M | >40 | 0 | 0 | 112 | - | 597.7 | No | Q2243X | - |
IV-1 | 4 | F | 2 | 0 | 0 | 130 | - | 130 | No | Q2243X | - |