Inherited disorders of bilirubin clearance

Abstract

Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective 1) unconjugated bilirubin uptake and intrahepatic storage, 2) conjugation of glucuronic acid to bilirubin (e.g. Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, breast milk jaundice), 3) bilirubin excretion into bile (Dubin-Johnson syndrome), or 4) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy.

The value of grip test, lysophosphatidlycholines, glycerophosphocholine, ornithine, glucuronic acid decrement in assessment of nutritional and metabolic characteristics in hepatitis B cirrhosis

“…We found that glucuronic acid levels were significantly reduced in patients with cirrhosis, which directly affected the metabolism of bilirubin. This finding was consistent with the exacerbation of jaundice concurrent with the reduction of hepatic compensatory ability [36]. …”

Hyperbilirubinemia following lenalidomide administration

“…The mutation, A (TA) 7TAA, is thought to be the main cause of the syndrome in Caucasians; however, more than 100 different mutations have been implicated in GS, including enhancer polymorphisms that lower transcriptional activity, as well as missense mutations which affect enzyme function 9.…”

A Modern Look at Breastfeeding in Neonatal Hyperbilirubinaemia

“…Отмена ГВ на короткое время показана в исключительных случаях [7,24]. Таким образом, желтуха грудного молока вызвана сочетанием генетических и экологических факторов (например, компонентов груд-ного молока) [25]. Желтуха, связанная с ГВ (ЖГВ), точнее с недостаточным ГВ, обусловлена, кроме сниженной конъюгации билирубина, еще и повышенной энтерогепа-тической циркуляцией билирубина, которая возникает при голодании [26].…”