Table 2.
Extrarenal manifestations in reported HNF1B patients
| Pedigree ID (sex) | Family 1 |
Family 3 |
Family 5a |
Family 6 |
||
|---|---|---|---|---|---|---|
| I-1 (M) | II-1 (M) | I-1 (M) | II-2a (F) | II-3a (F) | I-1 (M) | |
| Pancreas abnormalities | Hypoplasia | Hypoplasia | Hypoplasia | — | — | Hypoplasia |
| Genital tract abnormalities | — | — | — | Septate uterus | — | EDO |
| Glycemic status: diabetes | — | Yes | Yes | Yes | GD | Yes |
| Neurologic impairment | — | — | — | — | — | Epilepsy, mild cognitive impairment |
| Cardiovascular disease | Severe aortic insufficiency | Mild aortic bulb ectasia, MVP |
— | — | — | MVP |
—, not present; EDO, ejaculatory duct obstruction; F, female; GD,gestational diabetes; M, male; MVP, mitral valve prolapse; No, absent; Yes, present.
a
Patients reported in Izzi et al.8