Autoszomális recesszív
Caused by changes in both copies of the AKR1D1 gene, which makes the enzyme delta-4-3-oxosteroid 5-beta-reductase. Without it, normal bile acids are not made and abnormal, liver-damaging bile acids build up.
Tünetek és jelek
Babies develop jaundice from blocked bile flow (cholestasis) in the first weeks or months of life, with pale stools and an enlarged liver. Poor fat absorption can lead to slow growth and low levels of vitamins A, D, E and K, which can cause bleeding. Without treatment, liver damage can progress to cirrhosis, which can be fatal in childhood.
Mit változtat a diagnózis
Oral chenodeoxycholic acid replaces the missing bile acids. When started early, it can improve jaundice, liver function and liver size. Fat-soluble vitamin levels and liver function are monitored. Genetic counselling is recommended, and carrier testing is available for relatives.
Vizsgált gének
Más néven
AKR1D1 congenital bile acid synthesis defect; BASD2; congenital bile acid synthesis defect type 2; CBAS2; cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; congenital bile acid synthesis defect caused by mutation in AKR1D1
