Table 1.
Plasma and urine biochemistry values
| Parameters by age, yr | n (mut+) | mut+ Median (range) |
mut− Median (range) |
Wilcoxon |
|---|---|---|---|---|
| GFR | ||||
| 0–4.5 | 76 (20) | 61 (43–91) | 70 (32–117) | 0.4 |
| 4.5–9.0 | 51 (11) | 69 (31–95) | 60 (30–115) | 0.4 |
| 9.0–13.5 | 43 (11) | 71 (43–101) | 62 (30–106) | 0.3 |
| 13.5–18.0 | 26 (5) | 59 (36–78) | 62 (32–109) | 0.7 |
| Magnesium | Normal >0.66 (<9 yr) or 0.7 (>9 yr) mmol/l | |||
| 0–4.5 | 71 (18) | 0.76 (0.53–0.88) | 0.83 (0.61–1.11) | 0.004a |
| 4.5–9.0 | 49 (10) | 0.69 (0.52–0.77) | 0.77 (0.52–0.97) | 0.005 |
| 9.0–13.5 | 40 (10) | 0.57 (0.45–0.77) | 0.81 (0.64–0.96) | 0.00002a |
| 13.5–18.0 | 24 (5) | 0.53 (0.5–0.64) | 0.84 (0.61–1.01) | 0.001a |
| Potassium | Normal >3.5 mmol/l | |||
| 0–4.5 | 73 (20) | 4.2 (3.8–5.3) | 4.2 (3.8–5.3) | 0.4 |
| 4.5–9.0 | 51 (11) | 4.1 (3.7–4.6) | 4.1 (2.8–5.6) | 0.09 |
| 9.0–13.5 | 43 (11) | 3.9 (3.3–5.1) | 4.2 (3.3–5.0) | 0.09 |
| 13.5–18.0 | 26 (5) | 3.6 (3.4–4.0) | 4.2 (3.4–4.9) | 0.02a |
| Chloride | Normal >100 mmol/l | |||
| 0–4.5 | 14 (3) | 106 (101–106) | 105 (94–108) | 1 |
| 4.5–9.0 | 14 (4) | 104 (101–107) | 106 (101–112) | 0.9 |
| 9.0–13.5 | 16 (4) | 101 (101–109) | 104 (97–109) | 0.26 |
| 13.5–18.0 | 6 (3) | 100 (99–100) | 103 (101–109) | 0.14 |
| Bicarbonate | Normal <30 mmol/l | |||
| 0–4.5 | 71 (20) | 24 (16–27) | 22 (15–34) | 0.11 |
| 4.5–9.0 | 48 (11) | 25 (22–29) | 25 (18–29) | 0.09 |
| 9.0–13.5 | 41 (11) | 28 (24–31) | 23 (18–30) | 0.0002a |
| 13.5–18.0 | 23 (5) | 27 (25–31) | 24 (18–28) | 0.0007a |
| Normalized UCCR | Normal <1 | |||
| 0–4.5 | 7 (2) | 0.07 (0.07–0.07) | 0.5 (0.3–1.1) | 0.3 |
| 4.5–9.0 | 5 (3) | 0.1 (0.07–0.1) | 0.9 (0.1–1.8) | 0.7 |
| 9.0–13.5 | 1 (0) | No results | 0.5 | n/a |
| 13.5–18.0 | 9 (3) | 0.07(0.04–0.2) | 0.7 (0.2–1.1) | 0.07 |
| All ages | 22 (8) | 0.07 (0.04–0.2) | 0.5 (0.1–1.8) | 0.0005a |
GFR, glomerular filtration rate; n/a, not applicable; UCCR, urine calcium/creatinine ratio.
Shown are pertinent plasma and urine biochemistries separated according to HNF1B mutations status (mut+ vs. mut−) and according to the 4 age groups. The respective lower or upper limit of normal is indicated for each electrolyte concentration. The number of patients with available data “n” according to mutation status is provided in the second column, with the number of mut+ patients in parentheses. Note that patients can be represented in more than 1 age group, if data were available.
The Wilcoxon test compares the median values between the mut+ and mut− groups. The UCCR is normalized to the respective upper limit of normal for age to allow comparison across the age groups. There were too few measurements for this parameter to allow robust statistical comparison in the individual age groups.
Note that median magnesium values are significantly different between mut+ and mut− patients in all age groups. Median bicarbonate and potassium values were also significantly different but only in late childhood.
Significant (P < 0.05) values.