Table 2.
The HNF1B Scores of the Patient.
| Characteristics | Item | Value | This patient |
|---|---|---|---|
| Family history | +2 | ||
| Antenatal renal abnormalities | Uni/bilateral abnormality by renal echography | +2 | |
| Kidneys and urinary tract | |||
| Lef kidney | Hyperechogenicity | +4 | |
| Renal cysts | +4 | 4 | |
| Hypoplasia | +2 | 2 | |
| Multicystic and dysplastic kidney | +2 | ||
| Urinary tract malformation | +1 | ||
| Solitary kidney | +1 | 1 | |
| Right kidney | Hyperechogenicity | +4 | |
| Renal cysts | +4 | ||
| Hypoplasia | +2 | ||
| Multicystic and dysplastic kidney | +2 | ||
| Urinary tract malformation | +1 | ||
| Solitary kidney | +1 | ||
| Electrolyte or uric acid disorders | Low serum Mg2+ (<0.7 mmol/L) | +2 | 2 |
| Low serum K+ (<3.5 mmol/L) | +1 | 1 | |
| Early-onset gout (>30 years of age) | +2 | 2 | |
| Pathological findings | Oligomeganephronia or glomerular cysts | +1 | |
| Pancreas | MODY or hypoplasia of tail and neck of the pancreas and pancreatic exocrine insufficiency | +4 | 4 |
| Genital tract | Genital tract abnormality | +4 | |
| Liver | Liver test abnormalities of unknown origin | +2 | 2 |
| HNF1B score | 18 (>8) |