Table 1.

Demographics, clinical, biochemical and genetic analyses on first contact.

Parameter	II.2a	RIb	II.2c	I.1	I.2	II.1	II.3	RId	III.1e	III.2e	III.3e
Age (years)	32	-	33	58	58	36	32	-	2	7	1
Gender (F/M)	F	-	F	M	F	M	F	-	M	M	F
Mutation present A±B	A/B	-	A/B	A/A	B	A/B	A/B	-	A	A	A
Total Ca2+ (mmol/L)	3.15	2.05–2.25	2.45	2.47	2.41	2.51	n/a	2.15–2.55	2.68	2.44	2.45
Adj. Ca2+ (mmol/L)	3.27	2.10–2.30	2.41	2.42	2.37	2.46	n/a	2.18–2.55	n/a	n/a	n/a
Albumin (g/L)	36	26–45	47	48	47	48	n/a	39–51	46	50	42
Phosphate (mmol/L)	1.04	0.87–1.48	0.93	1.37	1.2	1.1	n/a	0.87–1.45	1.61	1.46	1.81
iPTH (ng/L)	<6	18–25	15.5	54.9	37.6	18	n/a	15–65	23.5	21.8	46.3
25(OH)D (nmol/L)	264	25–55	105	57	35	148	n/a	75–125	141	81	93
1,25(OH)2D (pmol/L)	293	72–280	83	125	94	143	n/a	55–139	n/a	n/a	n/a
24,25(OH)2D (nmol/L)	n/a	-	3.3	n/a	n/a	2.1	n/a	1.3–13.5 (13)	n/a	n/a	n/a
25(OH)D:24,25(OH)2D ratio	n/a	-	32	n/a	n/a	70	n/a	7–23 (13)	n/a	n/a	n/a
1,25(OH)2D:24,25(OH)2D ratio	n/a	-	25	n/a	n/a	68	n/a	11–62	n/a	n/a	n/a
FGF-23 (RU/mL)	n/a	-	299	45	129	155	n/a	<100	n/a	n/a	n/a
Creatinine (µmol/L)	90	35–71	94	111	82	102	n/a	F: 49–90 M: 60–110	28	42	24
eGFR (mL/min/1.73 m2)	63	60–120	59	63	68	72	n/a	60–120	n/a	n/a	n/a
ALP (U/L)	51	25–126	35	72	55	68	n/a	35–104	367	235	263
fUr. Ca2+:creatinine molar ratio	0.82	0.25–0.75	n/a	0.21	0.21	n/a	n/a	0.25–0.75	n/a	n/a	n/a
Ur. Ca2+ (mmol/24h)	9.85	0.3–6.9	n/a	n/a	n/a	17.4	n/a	2.5–7.5	n/a	n/a	n/a

A or B, heterozygous; A, p.(Arg439Cys); A/A, homozygous; A/B, compound heterozygous, ^a17/40 weeks of gestation; B, p.(Trp275Arg); ^bspecific for trimester 2 of pregnancy; ^cindicates results from sample collected 3 months postpartum; ^dnon-pregnant adult; ^eall values for P6, P7 and P8 are within age-defined RIs; F, female; ^fspot/random urine sample; I.1, father; I.2, mother; II.1, brother; II.2, proband; II.3, sister; III.1, nephew; III.2, nephew; III.3, proband’s daughter; M, male; n/a, not available; RI, reference interval.