Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report

Table 1 Laboratory test results for the proband and her daughter

	The proband	The proband’s daughter	Reference
Sex	Female	Female
RBC ( 1012/L)	3.64	3.55	3.8-5.1
Hb (g/L)	99	105	115-150
PLT ( 109/L)	235	110	100-300
ALT (IU/mL)	19	30	< 40
AST (IU/mL)	29	30	< 35
ALP (IU/mL)	89	55	50-135
CK (IU/L)	80	NA	20-140
CK-MB (ng/mL)	0.35	NA	< 2.88
LDH (IU/mL)	232	NA	120-250
Serum uric acid (μmol/L)	313	311	160-380
Cr (μmol/L)	49	58	41-73
eGFR (ml/min/1.73 m2)	107.16	121	56-122
Ca (mmol/L)	2.22	2.26	2.11-2.52
P (mmol/L)	1.65	1.11	0.85-1.51
25-OH-VD (nmol/L)	34.9	NA	47.7-144
PTH (pmol/L)	2.96	NA	1.6-6.9
B-ALP (μg/L)	10.57	NA	11.4-24.6
CTX (ng/mL)	0.813	NA	0.556-1.008
N-MID OC (ng/mL)	22.7	NA	15-46
Growth hormone (ng/mL)	0.53	NA	0.126-9.88
IGF-1 (ng/mL)	81.78	NA	102-212
ACTH (ng/L)	19.11	NA	5-78
Cortisol (8:00 A.M.) (nmol/L)	260.8	NA	147.3-609.3
Cortisol (12:00 P.M.) (nmol/L)	68.07	NA	/
24 h urinary Ca (mmol/L)	2.45	NA	2.5-7.5
24 h urinary P (mmol/L)	11.84	NA	22-48
24 h urinary Mg (mmol/L)	1.62	NA	3-5

RBC: Red blood cell count; PLT: Blood platelet count; ALT: Alanine transaminase; AST: Aspartate transaminase; ALP: Serum alkaline phosphatase; CK: Creatine kinase; LDH: Lactate dehydrogenase; eGFR: Estimated glomerular filtration rate; 25-OH-VD: 25-hydroxyvitamin D3; PTH: Parathyroid hormone; B-ALP: Bone alkaline phosphatase; CTX: C-terminal telopeptides of type I collagen; N-MID OC: Serum N-terminal mid-fragment of osteocalcin; IGF-1: Insulin-like growth factor-1; ACTH: Adrenocorticotropic hormone; NA: Not available.

Table 2 Bone mineral density results for the proband and her daughter

	The BMD values of the proband (g/cm2)	T/Z score of the proband	The BMD values of the proband’s daughter (g/cm2)	T/Z score of the proband’sdaughter
L1	2.013	8.2/8.8	1.777	5.2/5.4
L2	2.146	8.7/9.4	1.811	5.0/5.1
L3	2.256	9.2/9.9	1.785	4.5/4.7
L4	2.335	9.9/10.4	1.900	5.3/5.5
L1-L4	2.203	9.1/9.7	1.820	5.1/5.2
Femoral neck	1.838	7.6/8.2	1.391	2.5/2.9
Total hip	1.851	6.7/7.2	1.344	2.7/2.9

T scores were calculated by comparison with the age-specific bone mineral density reference value of Chinese adolescents; Z scores were calculated by comparison with age-matched and sex-matched Chinese adults. BMD: Bone mineral density.