LPAC syndrome associated with deletion of the full exon 4 in a ABCB4 genetic mutation in a patient with hepatitis C.
Rev Esp Enferm Dig
; 106(8): 544-7, 2014 Dec.
Article
en En
| MEDLINE
| ID: mdl-25544413
ABSTRACT
Low-phospholipid-associated cholelithiasis syndrome (LPAC) is associated with ABCB4 genetic mutation. ABCB4 encodes MDR3 protein, involved in biliary phosphatidylcholine excretion.Higher prevalence in women, biliary symptoms in young adults and ursodesoxycholic acid (UDCA) response are the main features. We report the case of a 48-year-old man with hepatitis C, genotype 1b, fibrosis F3, null responder to Peg-IFN-alpha-2b/ribavirin and nephritic colic. In 2011 he developed jaundice, pruritus and epigastric pain.He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14,600,000 IU/mL). Pancreatic- CT, endoscopic ultrasonography and echo-Doppler showed noncirrhotic chronic liver disease. The episode resolved spontaneously and one year later he suffered a similar episode. UDCA was started with excellent response. An immunohistochemistry study and sequencing of ABCB4 did not find alteration. MLPA® technique detected heterozygous deletion of the full exon 4 confirming LPAC syndrome diagnosis.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Colestasis Intrahepática
/
Hepatitis C
/
Subfamilia B de Transportador de Casetes de Unión a ATP
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Rev Esp Enferm Dig
Asunto de la revista:
GASTROENTEROLOGIA
Año:
2014
Tipo del documento:
Article