Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China

Table 1 Results of liver function tests

Age (d)	TBIL (μmol/L)	DBIL (μmol/L)	ALT (IU/L)	AST (IU/L)	ALP (IU/L)	GGT (IU/L)	TBA (μmol/L)	TP(g/L)	ALB (g/L)
Reference values	5.1-17.1	0-6	0-40	0-40	42-383	7-50	0-10	60-83	35-55
26	154.6	128.5	34.0	44.0	NA	NA	NA	NA	NA
27	189.7	139.6	38.0	71.0	1088	NA	NA	NA	NA
33	183.1	146.4	49.0	51.0	940	33	115.0	50.6	33.1
41	162.4	135.5	34.0	50.0	1162	28	139.1	50.7	33.1

TBIL: Total bilirubin; DBIL: Direct bilirubin; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; ALP: Alkaline phosphates; GGT: Gamma-glutamyl-transpeptidase; TBA: Total bile acid; TP: Total protein; ALB: Albumin; NA: Not available.

Table 2 Results of complete blood count and urinalysis

Age (d)	WBC (× 109/L)	RBC (× 1012/L)	PLT (× 109/L)	HGB (g/L)	Urine pH	Urine protein	Urine glucose
Reference value	4-10	3.5-5.5	100-300	110-160	6.0-8.0	-	-
29	22.5	3.03	508	98.0	6.0	+	+
34	23.0	2.91	688	96.0	7.0	++	+
41	19.2	2.28	662	75.2	5.0	+	+

WBC: White blood cells; RBC: Red blood cells; PLT: Platelets; HGB: Hemoglobin.