Діагностична оцінка холестазу новонароджених

Etiology

Test

Hepatic dysfunction

Albumin, ammonia, PT/PTT, AST, ALT, GGT, total and direct bilirubin (see Tests for Cholestasis)

Infections

Urine cultures, TORCH titers, HIV screening and other hepatitides (hepatitis A, B, and C)

Endocrinopathy

TSH, thyroxine

Cystic fibrosis

Sweat chloride test, review of newborn screening test

Galactosemia

Neonatal screen, reducing substances (eg, galactose) in urine (see diagnosis of galactosemia)

Alpha-1 antitrypsin deficiency

Serum levels of alpha-1 antitrypsin, alpha-1 antitrypsin phenotype testing

Genetic errors in bile acid synthesis

Bile acid levels in urine and serum

Genetic testing

Inborn errors of metabolism

Urine organic acids, serum ammonia, serum electrolytes (see testing of inherited disorders of metabolism)

Alloimmune liver disease

Review of maternal obstetrical history for fetal deaths and/or prior infants with cholestasis

Alpha fetoprotein, ferritin, lipid profile

ALT = alanine aminotransferase; AST = aspartate aminotransferase; GGT = gamma-glutamyl transpeptidase; prothrombin time/partial thromboplastin time = PT/PTT; TORCH = toxoplasmosis, other pathogens, rubella, cytomegalovirus, and herpes simplex; TSH = thyroid-stimulating hormone.