Progressive family intrahepathic cholestasis. Chromosome 18 deletion, gene ATP8B1. Case report
DOI:
https://doi.org/10.47464/MetroCiencia/vol31/3/2023/68-75Keywords:
Jaundice, cholestasis intrahepatic, chromosome deletion, heterozygoteAbstract
Progressive familial intrahepatic cholestasis (PFIC) refers to a group of autosomal recessive disorders, which are linked by the inability to form and excrete bile adequately from hepatocytes, resulting in a hepatocellular form of cholestasis. This article presents a clinical case of a minor infant, born late preterm, without complications, who at two months of age presented with jaundice and coluria; laboratory and imaging tests were performed where cholestasis was evidenced and bile duct atresia was discarded. In addition to positive cytomegalovirus (IgM), she began treatment with ursodeoxycholic acid, fat-soluble vitamins and valganciclovir. During their follow-ups, little gain in weight, height and microcephaly was observed, in addition, prolongation of clotting times was noted, for which vitamin K was administered, with an adequate response. Due to the aforementioned, a genetic study was carried out in which a heterozygous chromosome 18 deletion was determined with involvement of the ATP8B1 gene associated with type 1 recurrent benign intrahepatic cholestasis or familial progressive intrahepatic cholestasis 1.
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Copyright (c) 2023 Fernando Aguinaga, Dayana Navarro Armas, Francis Ponce, Sofía Ortiz, Edison Aymacaña, Adriana Arnao
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