A Novel Mutation of Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype

Table 2

Blood/serum laboratory findings.

	Units	Patient values or range	Normal range
Hemoglobin	g/dl	7.3–12.9	10–14
White blood count	Cell/μL	6.5–34.3	5.6–13.9
Platelet count	Cell/μL	333–1135	150–450
Mean platelet volume	fL	9.4–12.2	7.5–11.0
Total bilirubin	mmol/L	68.4–342	5.0–21.0
Conjugated bilirubin	mmol/L	49.6–262	1.7–5.1
Alanine aminotransferase	IU/L	33–242	13–45
Aspartate aminotransferase	IU/L	77–444	9–80
Gamma-glutamyl transpeptidase	IU/L	23–60	15–90
Alkaline phosphatase	IU/L	334–1440	70–380
Bile acids	μmol/L	115	0–8
α1-antitrypsin	μmol/L	28	16.2–50.4
Total protein	g/L	43–57	51–71
Albumin	g/L	22–36	32–56
Urea	mmol/L	7.1–31.8	2.9–8.2
Creatinine	μmol/L	45.1–87.5	18–35
Na	mmol/L	133–163	130–145
K	mmol/L	3.1–5.4	4.1–5.3
Cl	mmol/L	108–140	91–108
P	mg/dL	2.2–5.5	4.0–6.5
Ca	mmol/L	2.3–2.5	2.25–2.75
Cholesterol	mmol/L	3.8–5.3	4.4–5.2
Triglycerides	mmol/L	4.97–7.80	0.34–3.29
Lactate dehydrogenase	IU/L	208–431	<24 mo 180–430
Creatine phosphokinase	IU/L	12–39	20–200
TSH	mIU/L	1.7–12.0	<12
FT4	pmol/L	14.2–18.0	10.8–22.6

mo, month; Fl, femtolitre.