Table 3.
Subjects with positive genetic test (n = 5) |
Subjects with negative genetic test (n = 35) |
P-value | |
---|---|---|---|
Age at diagnosis (years) | 54.2 ± 16 | 50.8 ± 15 | 0.6526 |
Calcium (mmol/L) | 3.36 ± 0.49 | 2.99 ± 0.49 | 0.0817 |
PTH (pmol/L) | 134.95 ± 159.25 | 38.18 ± 48.65 | 0.1582 |
Mean P min pre-surgery (mmol/L) | 0.63 ± 0.19 | 0.87 ± 0.4 | 0.1005 |
Calcium creatinine clearance ratio (CCCR)* | 0.0085 | 0.022 | 0.0057 |
More than one inclusion criteria (%) | 3/5 (60 %) | 10/35 (28.6 %) | 0.1605 |
Data are expressed as mean ± standard deviation. The positive genetic test group included patients with LP or P variants, according to the ACMG criteria. The negative genetic test group included subjects with VUS variants or those without any variants found in the genes studied. *CCCR was analysed with Wilcoxon test being lower in subjects with class LP or P variants when compared to subjects with negative genetic test (P = 0.005). When analysing the differences in CCCR between patients who presented with each type of mutation (CASR, CDKN1B, or non-mutated; Kruskal-Wallis test), a statistically significant difference was observed (P = 0.02), mainly at the expense of subjects with mutated CASR, in whom the CCCR value was much lower.