. 2021 Jun 7;5(7):e10509. doi: 10.1002/jbm4.10509

TABLE 2.

Biochemistry findings in 13 mutation‐positive and five mutation‐negative family members with heterozygous missense mutation p.G218R in ARHGAP25

Code	Sex	Age	Hb	Ca	Pi	PTH	D25OH	FGF23, i	ALP	P1NP	Cr	U‐INTP	U‐Ca	U‐Pi	Hypercalciuria
Mutation‐positive subjects (n = 13)
II‐2 ^a	F	69	152	2.34	0.67	40	99	N/A	67	32	74	22	0.99	6.9	N
II‐1	M	70	168	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
II‐3 ^a	M	67	161	2.31	0.76	37	82	N/A	82	35	87	2.9	2.6	38.6	N
II‐4 ^a	F	64	143	2.30	1.03	52	79	N/A	86	58	69	36	7.9	48.0	N
II‐5	M	61	151	1.26	N/A	N/A	125	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
III‐2	F	42	146	N/A	N/A	N/A	N/A	N/A	49	N/A	77	N/A	N/A	N/A	N/A
IV‐2	M	7	148	N/A	N/A	N/A	N/A	N/A	151	N/A	N/A	N/A	N/A	N/A	N/A
III‐3 ^a	F	40	145	2.33	1.20	29	96	N/A	28	28	N/A	2.5	N/A	N/A	N
IV‐3 ^a	F	11	138	2.35	1.44	34	79	N/A	172	740	N/A	820	N/A	N/A	N
II‐7 ^a	M	62	154	2.22	0.67	109	103	54.05	48	N/A	100	30	5.86	29.7	N
II‐6 ^a	M	62	174	2.42	0.56	51	81	47.92	54	49	95	32	2.61	12.9	N
III‐5 ^a	F	36	147	2.19	0.75	94	62	41.12	84	N/A	59	27	2.09	27.6	N
III‐6 ^a	F	33	138	2.24	0.72	63	87	34.34	77	N/A	65	35	1.8	13.9	N
Mutation‐negative subjects (n = 5)
I‐1	M	93	144	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
III‐1	F	45	140	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
IV‐4 ^a	M	8	128	2.36	1.58	32	90	N/A	131	653	N/A	850	N/A	N/A	N
IV‐1	M	9	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
III‐4	F	40	134	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A

Notes: Supranormal values are in italics and subnormal values are in bold. Normal ranges according to HUSLAB Laboratory (F/M): B‐Hb (g/L): 4–7 years, 112–147; 8–11 years, 116–154; 12–15 years, 120–154/123–170; >18 years, 117–155/134–167; P‐Ca (calcium, mmol/L): 2.15–2.51; P‐Pi (phosphate, mmol/L): 0.76–1.41; fP‐PTH (ng/L): 10–65; D25OH (nmol/L): > 50; ESR (mm/h): <15; FGF23 (intact) according to Immutopics International and Kainos Laboratories: 8.2–54.3 pg/mL. P‐ALP (U/L): 10–11 years, 115–435/115–335; 12–13 years, 90–335/125–405; 16–18 years, 35–125/55–330; >18 years, 35–105; S‐P1NP (intact; bone formation marker, μg/L): 10–11 years, 388–1094/328–1169; 12–13 years, 82–650/194–1146; 16–17 years, 25–148/67–436; >18 years, 17–124/21–110; Cr (μmol/L): 6–12 years, 10–76; 13–16 years; 15–90/20–95; >18 years; 50–90/60–100; U‐INTP (bone resorption marker, nmol/mmol Cr): 1–13 years, 307–1763; 14–17 years, 55–378/102–1048; >18 years, <65 (premonepausal)/<63; postmenopausal women, 21–116⁽ ⁶⁶ ⁾; hypercalciuria (urine calcium creatinine ratio): >0.7.

Abbreviations: ALP, alkaline phosphatase; B‐Hb, hemoglobin; CR, creatinine; D25OH, 25‐hydroxy vitamin D; ESR, erythrocyte sedimentation rate; F, female; FGF23, fibroblast growth factor 23; M, male; P1NP, procollagen I N‐terminal propeptide; PTH, parathyroid hormone; U‐INTP, urine type I collagen cross‐linked N‐telopeptide; Y, yes; N, no; N/A, not available.

^{^a}

Clinically evaluated during a study visit at the Helsinki University Hospital.