Table 1.
A) Baseline Laboratory Values of Individuals with WNT2B Deficiency | |||||
---|---|---|---|---|---|
Aldosterone | Renin | ARR | BUN | Creatinine | |
Individual A | 583 | 286.5 | 2.0 | 3.2 | 39 |
Individual B | 323 | 341.1 | 0.9 | 4.5 | 23 |
Reference | 140–2220 pM | 5.4–34.5 ng/dL | 10.2–23.7 pM/ng | 2–8 mM | 17.7–79.6 |
Individual C | 12 | 18 | 0.67 | 12 | 0.2 |
Reference | 7–54 ng/dL | 1.7–11.2 ng/mL/h | 0.80–13.10 | 15–18 mg/dL | 0.2–0.4 mg/dL |
B) Response to Fludrocortisone (Individual C) | ||||||
---|---|---|---|---|---|---|
Age (Months) | 25 | 30 | 31 | 32 | 37 | |
Fludrocortisone | 0 mg | 0.1 mg | 0.05 mg | 0.05 mg | 0.05 mg | |
Reference | ||||||
Aldosterone | 8.5 | <1.0 | <1.0 | <1.0 | <1.0 | 7–54 ng/dL |
Renin | 19.0 | 0.76 | 1.0 | 9.6 | 8.6 | 1.7–11.2 ng/mL/h |
ARR | 0.67 | 0.45 | -- | -- | -- | 0.80–13.10 |