Table 2.

Biochemical analyses and vitamin D metabolite profiling during follow-up: proband (II.2) and brother (II.1).

Parameter	Proband (aII.2)					aII.1		Reference interval
	F					M
Month/year	b05/16	04/17	06/17	11/18	05/19	05/16	07/17	-
Total Ca2+ (mmol/L)	2.45	2.50	2.53	2.59	2.54	2.51	2.65	2.15–2.55
Adj. Ca2+ (mmol/L)	2.41	2.51	2.49	2.55	2.52	2.46	2.60	2.17–2.51
Albumin (g/L)	47	44	47	47	46	48	48	39–51
Phosphate (mmol/L)	0.93	1.10	1.19	1.47	1.21	1.10	1.16	0.87–1.45
iPTH (ng/L)	15.5	<6.0	12.3	10.2	9.6	18.0	14.6	15–65
25(OH)D (nmol/L)	105	94	104	106	89	148	136	75–125
1,25(OH)2D (pmol/L)	83	124	135	101	124	143	192	55–139
24,25(OH)2D (nmol/L)	3.3	1.3	1.7	2.5	1.3	2.1	2.6	1.3–13.5
25(OH)D:24,25(OH)2D ratio	32	72	61	42	68	70	52	7–23
1,25(OH)2D:24,25(OH)2D ratio	25	95	79	40	95	68	74	11–62
FGF-23 (RU/mL)	299	n/a	216	n/a	n/a	155	240	<100
Creatinine (µmol/L)	90	75	76	72	87	102	108	F: 49–90M: 60–110
eGFR (mL/min/1.73 m2)	63	>90	88	>90	74	72	75	60–120
ALP (U/L)	51	46	48	37	43	68	72	35–104
cUr. Ca2+:creatinine molar ratio	0.82	n/a	1.32	n/a	n/a	n/a	n/a	0.25–0.75
Ur. Ca2+ (mmol/24h)	9.85	n/a	n/a	n/a	n/a	17.4	n/a	2.5–7.5

^acompound heterozygous (A/B): A, p.(Arg439Cys); B, p.(Trp275Arg); eGFR was calculated using the Chronic Kidney Disease-Epidemiology Collaboration (CKD-EPI) formula; F, female; M, male; ^b3 months post-partum (not breastfeeding); n/a, not available; ^cspot/random urine sample.