Table 2. Results of glucose excretion studies and mutation analysis in patients with familial renal glucosuria and their family members.
| Family-member | 24 h Glucose excretion (g/24 h/1.73 m2) | Allele 1 | Allele 2 |
|---|---|---|---|
| Ic (proband) | 10.56 | p.S335G | p.Q448R+ p.G580D |
| Ia (father) | 0.15 | p.S335G | WT |
| Ib (mother) | 0.10 | WT | p.Q448R+ p.G580D |
| IIc (index case) | 1.96 | c.886(-10_-31)del | WT |
| IIa (father) | 1.88 | c.886(-10_-31)del | WT |
| IIb (mother) | 0.08 | WT | WT |
| IIIc (proband) | 1.77 | c.886(-10_-31)del | WT |
| IIIa (father) | 2.04 | c.886(-10_-31)del | WT |
| IIIb (mother) | 2.3a | WT | WT |
| IIId (brother) | 0.01 | WT | WT |
| IIIe (daughter) | 0.02 | WT | WT |
| IVc (proband) | 1.66 | c.886(-10_-31)del | WT |
| IVa (father) | Φ | WT | WT |
| IVb (mother) | Φ | c.886(-10_-31)del | WT |
| Vc (proband) | 12.74 | c.886(-10_-31)del | WT |
| Va (father) | 0.03 | WT | WT |
| Vb (mother) | 0.88 | c.886(-10_-31)del | WT |
| Via (proband) | 1.34 | p.A474P | WT |
| VIb (son) | 2.25 | p.A474P | WT |
| VIIc (proband) | 50.68 | c.886(-10_-31)del | c.886(-10_-31)del |
| VIIa (father) | 1.44 | c.886(-10_-31)del | WT |
| VIIb (mother) | 2.45 | WT | c.886(-10_-31)del |
| VIId (daughter) | 1.78 | c.886(-10_-31)del | WT |
| VIIIa (proband) | 1.58 | p.K131N | WT |
| VIIIb (spouse) | 0.17 | WT | WT |
| VIIIc (son) | 1.37 | p.K131N | WT |
Patients with familial renal glucosuria are indicated by boldface; wt, wild type; Ø, no glucosuria by dipstick method;
aat elevated blood glucose concentrations as a result of type 2 diabetes.