Table 2.

Demographic, Clinical, Biochemical, and Genetic Data in a Family with ENPP1 Gene Mutations HET C.323G > T p.Cys108Phe and HET C.1441C > T p.Arg481Trp

Subject no.	II–2	I–1	I–2	II–3	II–4	II–5	III–11	III–2	III–3
Age (years)	54	78	78	55	53	52	29	28	25
Sex	F	F	M	F	F	M	F	M	M
Height (cm)	163	157.5	—	171.3	153	184	170.8	192	187
Mutation present	c.323G > T/c.1441C > T	c.1441C > T	c.323G > T	None	c.323G>T/c.1441C>T	None	c.323G > T	c.1441C > T	c.1441 C> T
Normocalcemic PHPT with parathyroidectomy	Yes (2 glands)	No	No	No	Yes (3 glands)	No	No	No	No
Osteosarcoma	No	No	No	No	No	No	Yes	No	No
Melanoma	No	No	No	No	No	No	No	No	Yes
Schwannoma	No	Yes	No	No	No	No	No	No	No
Bowing of bilateral femurs	Yes	No	No	No	Yes	No	No	No	No
Hearlng loss	Yes3	No	No	No	Yes2	No	No	No	No
Congenital heart defect	No	No	No	No	Yes	No	No	No	No
Perlarticular mineral deposition	Yes	No	No	No	Yes	No	No	No	No
Enthesopathy	No	No	No	No	Yes	No	No	No	No
Coronary artery calclficatlon	Absent	—	—	—	Absent	—	—	—	—
Carotld artery plaque	Absent	—	—	—	Absent	—	—	—	—
Carotid intima-media thickness	>75% for age and sex	—	—	—	>75% for age and sex	—	—	—	—
Aortic calcificatlon	Absent	—	—	—	Absent	—	—	—	—
Tubular resorptlon of phosphate (>80%)	76.64; 75.85	87	—	91.4	86.4	84.8	85.5	80.5	84.4
Serum pyrophosphate (1600–2500 nM)	2091 ± 14	1866 ± 12	—	1606 ±4	1275 ± 8	2057 ± 24	1131 ± 8	1124 ± 12	1189 ± 12
Serum C-termlnal FGF23 (<180 RU/mL)	103	153	—	68	190	78	70	65	61
Serum Intact FGF23 (10–50 pg/mL)	94.7	13.77	—	76.95	93.77	41.5	25.36	34.23	29
25-(OH)D (20–80 ng/mL)	37	49	—	65	27	13	26	25	30
1,25-dlhydroxyvltamln D (18–64 pg/mL)	944; 325	102	—	76	54	62	86	67	66
Calclum (normal ranges, mg/dL)	9.94; 8.65 (8.9–10.1)	8.8 (8.8–10.2)	—	9.8 (8.6–10)	8.6 (8.6–10)	9.4 (8.6–10)	8.8 (8.6–10)	10.2 (8.6–10)	9.9 (8.6–10)
Albumin corrected calcium (mg/dL)	8.04	8.72	—	9.16	8.68	9.08	8.64	9.32	9.1
Phosphorus (2.5–4.5 mg/dL)	1,94; 2.35	3.1	—	3.5	2.5	2.6	2.5	2.4	3.3
PTH (15–65 pg/mL)	1564; 475	79	—	87	83	88	21	30	32
Creatinine (0.8–1.3 mg/dL)	0.7	0.98	—	0.93	0.78	0.94	0.71	1.08	1.15
eGFR (>90 ml/min)	> 90	55	—	69	87	> 90	> 90	> 90	89
Beta-CTx (pg/mL) Male: 120–946 (18–30 years); 93–630 (31–50 years); 35–836 (51–70 years); Female: 25–573 (premenopausal); 104–1008 (postmenopausal)	4124	139	—	249	596	370	301	446	538
Bone Alkaline Phosphatase (mcg/L) Male: ≤20 Female: ≤14 (premenopausal); ≤22 (postmenopausal)	134	13	—	10	21	13	9.1	11	10

PHPT = primary hyperparathyroidism; PTH = parathyroid hormone.

¹Estimated 7 to 8 weeks pregnant.

²Maternal measles during pregnancy.

³Conductive hearing loss.

⁴Tested before parathyroidectomy.

⁵Tested after parathyroidectomy.