Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.

Robert HegartyOlivia GurraJenneh TarawallySammi AllouniObydur RahmanSandra StrautnieksEirini KyranaNedim HadzicRichard J ThompsonTassos Grammatikopoulos

Published in: Journal of pediatric gastroenterology and nutrition (2023)

Rare variants in ABCB4 were found amongst infants and children with cholestatic liver disease. The presenting problems were variable and abnormalities tended to normalize over time. Those with severe mutations could develop liver disease later in life when exposed to further insult and should be counseled appropriately.

Keyphrases

liver injury
young adults
drug induced
liver fibrosis
mental health
copy number
early onset
gene expression
dna methylation