Isolated congenital asplenia with cryptogenic liver fibrosis and a novel SON variant: A case report

Table 1 Laboratory test results

Parameter	Value (reference)	Significance
ANA/ASMA/AMA/ANCA/IgG4	Negative	Exclude autoimmune diseases
Ferritin and transferrin saturation	Within normal limits	Exclude hemochromatosis
Hemoglobin	88 g/L (130-175)	Anemia
Platelets	354 × 109/L (125-350)	Reactive thrombocytosis
Albumin	27.6 g/L (40–55)	Hypoalbuminemia
ALT/AST	71/77 U/L (9-50/15-40)	Hepatocellular injury
Fasting plasma glucose	Within normal limits	Normal glucose metabolism
Serum lipids	Within normal limits	Normal lipid profile
eGFR	71.6 mL/minutes/1.73 m² (> 90)	Stage 2 CKD
Urine protein–creatinine ratio	224.46 μg/mg (≤ 78.24)	Nephrotic-range proteinuria
D-dimer	5.4 μg/mL (< 0.5)	Hypercoagulable state
Urine protein electrophoresis (micro-total urinary protein)	2115 mg/L (< 150.00)	Renal injury

ALT: Alanine aminotransferase; AMA: Antimitochondrial antibody; ANA: Antinuclear antibody; ANCA: Antineutrophil cytoplasmic antibodies; ASMA: Anti-smooth muscle antibody; AST: Aspartate aminotransferase; eGFR: Estimated glomerular filtration rate; IgG4: Immunoglobulin G4; CKD: Chronic kidney disease.