Urinary excretion of bile alcohols in normal children and patients with alpha 1-antitrypsin deficiency during development of liver disease.

Healthy infants and children were found to excrete bile alcohol glucuronides in urine. Following isolation and hydrolysis, the bile alcohols were estimated by capillary gas-liquid chromatography. The daily urinary excretion of the major compound, 27-nor-5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 xi, 25 xi-pentol (a C26 bile alcohol), ranged from 0.1 to 1.1 mumol/24 h per m2 body surface area for healthy infants and children. Two groups of patients with alpha 1-antitrypsin deficiency (phenotype PiZ) were also studied during infancy and childhood, and biochemical liver function tests and liver morphology were compared to the excretion of bile alcohols. The highest excretion of the C26 bile alcohol in urine was found in patients with alpha 1-antitrypsin deficiency and juvenile cirrhosis (2.1-8.4 mumol 24 h-1 m-2) regardless of preceding neonatal cholestasis. Patients with alpha 1-antitrypsin deficiency, neonatal cholestasis and subsequent fibrosis or normal liver morphology excreted bile alcohols within the normal range. The C26 bile alcohol constituted an average of 36% of the total bile alcohols in forty-three urine samples. This percentage was about the same in the three groups studied. The findings suggest that determination of urinary bile alcohols may be a valuable non-invasive diagnostic tool for patients with or at risk of developing liver cirrhosis.