Table 1.
Clinical characteristics of an HNF1B patient who benefited from surgical nephrectomy
| Characteristic | Presentation |
|---|---|
| Sex | Male |
| HNF1B mutation | p.Leu286Val |
| Age at presentation, yr | 5 |
| Renal involvement | Urolithiasis, nephrocalcinosis, no renal cyst |
| CKD with tubulointerstitial presentation and progressive renal failure | |
| Low serum potassium | |
| Renal glycosuria | |
| Phosphaturia | |
| Incomplete distal tubular acidosis | |
| Generalized aminoaciduria, tubular proteinuria | |
| Extrarenal involvement | |
| Pancreas | Maturity onset diabetes of the young (age 23 yr) |
| Liver | Tail hypoplasia and calcifications |
| Genital tract | Liver tests abnormalities |
| Other | No cyst |
| Not assessed | |
| Epilepsy | |
| Renal presentation at nephrectomy | |
| eGFR | 23 ml/min |
| Serum potassium | 3 mmol/L |