Table 3.

Anthropometric, biochemical, hormone and DXA-derived parameters: comparison between patients harboring pathogenic, benign variants and the wild-type alleles of the ALPL gene

Parameters	Pathogenic ALPL variants	Benign ALPL variants	Wild-type ALPL alleles	P
Age (years)	58.8 ± 3.3	59.1 ± 4.5	53.4 ± 3.8	0.535
BMI (kg/m2)	25.8 ± 0.9	21.7 ± 1.8	23.7 ± 2.1	0.453
Serum total ALP (U/L)	26.1 ± 2.3	32.3 ± 2.5	30.8 ± 2.3	0.274
Serum CTX (ng/mL)	0.541 ± 0.088	0.482 ± 0.081	0.285 ± 0.054	0.051
Serum total calcium (mg/dL)	9.2 ± 0.2	9.3 ± 0.1	9.4 ± 0.1	0.723
Serum phosphate (mg/dL)	3.8 ± 0.2	3.4 ± 0.2	3.3 ± 0.2	0.237
Serum 25OHD (ng/mL)	29.6 ± 5.2	39.0 ± 3.3	42.8 ± 3.8	0.112
Serum 25OHD < 30 ng/mL, n (%)	3 (60%)	1 (12.5%)	1 (11%)	0.080
Plasma PTH (pg/mL)	55.3 ± 8.0	41.2 ± 8.5	56.3 ± 7.8	0.205
UCa (mg/24 h)	186.4 ± 25.5	212.3 ± 21.8	154.4 ± 11.0	0.101
UCa (mg/kg/24 h)	2.7 ± 0.3	3.8 ± 0.5	2.6 ± 0.2	0.048
L1-L4 T-score	− 1.96 ± 0.74	− 1.94 ± 0.78	− 1.54 ± 0.37	0.849
Femoral neck T-score	− 2.14 ± 0.38	− 1.88 ± 0.27	− 1.50 ± 0.36	0.453
Total hip T-score	− 1.33 ± 0.59	− 1.41 ± 0.29	− 1.27 ± 0.30	0.950
DXA osteoporosis, n (%)	2 (40%)	4 (50%)	4 (44%)	0.937
Urinary PEA (mmol/mol creatinine)	5.8 ± 0.3	3.1 ± 0.7	2.3 ± 0.6	0.005
Serum PLP (µg/L)	30.5 ± 13.6	11.0 ± 0.9	10.6 ± 2.0	0.050

Data are presented as mean ± SEM and compared by oneway-ANOVA corrected by Holm-Sidak test for multiple comparisons. Categorical variables are presented as absolute and percentage frequencies and compared by Chi-square test

Bold values indicate statistically significant P values

DXA bone densitometric measurements, BMI body mass index, ALP alkaline phosphatase, PEA phosphoethanolamine, PLP Pyridoxalphosphate, 25OHD 25-hydroxyvitamin D, PTH parathormone, CTX collagen type 1 cross-linked C-telopeptide, UCa urinary calcium excretion, L1-L4 lumbar spine