Table 3.
Renal imaging (US, CT, or MRI scan) in reported HNF1B patients
| Family | Pedigree ID | Presentation | Last follow-up |
|---|---|---|---|
| Family 1 | I-1 | Multiple bilateral cysts, increased TKV, renal stone (56 yr) | Multiple bilateral cysts, increased TKV (73 yr) |
| II-1 | Normal kidneys (2 yr) | Multiple bilateral cysts, normal kidneys (36 yr) | |
| Family 2 | II-1 | Few bilateral cysts, normal kidneys (28 yr) | Bilateral small cysts, small kidneys, renal stones (54 yr) |
| Family 3 | I-1 | Few cysts, normal kidneys (35 yr) | Few cysts, small kidneys (49 yr) |
| II-1 | Normal kidneys (19 yr) | NA | |
| Family 4 | I-2 | Normal kidneys (28 yr) | Few cortical cysts, small kidneys (38 yr) |
| II-1 | Few bilateral cysts (9 yr) | NA | |
| Family 5 | III-1 | Antenatal: HE, enlarged kidneys (22 wk); bilateral cysts, normal kidneys (3 yr) | Multiple bilateral cysts (25 yr) |
| II-2 | Few bilateral cysts | Few small bilateral cysts (45 yr) | |
| II-3 | NA | Bilateral cysts (40 yr) | |
| Family 6 | I-1 | MSK,, few left renal cysts, right hypoplastic kidney (23 yr) | MSK, bilateral cysts, right hypoplastic kidney (45 yr) |
| II-1 | Echogenic foci in renal medulla suggestive for calcifications (8 yr) | MSK, few small cysts (16 yr) | |
| Family 7 | II-1 | NA | Bilateral cysts, small kidneys (33 yr) |
Age in parentheses is age at evaluation. CT, computed tomography; HE, hyperechogenic kidneys; MRI, magnetic resonance imaging; MSK, medullary sponge kidney; NA, not available; TKV, total kidney volume; US, ultrasound; wk, week of gestation.