Early-onset hepatic fibrosis linking to a novel PYROXD2 mutation: A case report

Table 1 Abnormal results of the proband’s father’s blood test (laboratory test)

	Abnormal indicator	Reference range
ALT	61.7 U/L	0-40 U/L
AST	54.0 U/L	0-40 U/L
FBG	6.45 mmol/L	3.8-6.1 mmol/L
TC	3.12 mmol/L	0.57-1.46 mmol/L
TBIL	22.3 mmol/L	0-22 μmol/L
IBIL	18.7 mmol/L	0-17 μmol/L
PLT	259 × 109/L	100-300 × 109/L

Fibrosis-4 (FIB-4) index: FIB-4 = (age × aspartate transaminase)/(platelets × alanine aminotransferase). ALT: Alanine aminotransferase; AST: Aspartate transaminase; FBG: Fasting blood glucose; TC: Total cholesterol; TBIL: Total bilirubin; IBIL: Indirect bilirubin; PLT: Platelet.

Table 2 Whole-genome sequencing analysis of liver fibrosis-associated genes in the proband

Gene name	Associated liver condition	Analysis result
SERPINA1	Alpha-1 antitrypsin deficiency	No rare coding variants identified
ATP7B	Wilson disease	No known pathogenic variants found
HFE	Hemochromatosis	No rare coding variants identified
PNPLA3	MASLD	No known pathogenic variants found
TM6SF2	MASLD	No rare coding variants identified
MBOAT7	MASLD	No rare coding variants identified
HSD17B13	MASLD	No rare coding variants identified
AGJ1	Alagille syndrome	No known pathogenic variants found
COL3A1	Vascular Ehlers-Danlos syndrome	No known pathogenic variants found

MASLD: Metabolic dysfunction-associated steatotic liver disease.