Cholestase, jaundice, and refractory pruritus are a characteristic of the Progressive family intrahepatic cholestasis type 1 (PFIC-1), autosomal recessive disease. Some PFIC-1 individuals develop and cause liver transplantation with cirrhosis of the liver and end-stage liver disease (LT). In this observational study, the LT’s long-term results for PFIC 1 have been clarified and the results have been positive. The cohort of research included 12 PFIC-1 patients who underwent LDLT throughout the past three decades. The study examined clinical events and types of ATP8B1 mutations between effective LDLT patients and in patients where it was unsuccessful. In 5 out of 12 patients, LDLT failed and the 25-year percentage of survival was 58%. The physical growth following LDLT was compared with considerable delays in height in individuals without LDLT, who had developed severe and chronic diarrhoea. Genotypical analyses of ATP8B1 found that frameshifting, splicing and deletion mutations happened more frequently in successful instances, but in failure instances misnomer mutations took place more frequently. In both groups, no mutations were the same.

These data indicate that after LT results and extrahepatic symptoms, notably intestinal function, are associated. Further study of interrelationships of ATP8B1 genotypes with bowel function may assist in identifying PFIC-1 patients with positive post-LT results.

Reference: https://journals.lww.com/jpgn/Abstract/2021/03000/Long_term_Outcomes_of_Living_donor_Liver.18.aspx