Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
World J Gastroenterol
; 18(44): 6504-9, 2012 Nov 28.
Article
en En
| MEDLINE
| ID: mdl-23197899
Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation in ATP8B1. We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for thirteen years, in addition to cholestasis that eventually became fatal. Genetic sequencing studies of the entire coding (exon) sequences of ATP8B1 and ABCB11 uncovered a novel heterozygous missense 3035G>T mutation (S1012I) and a synonymous 696T>C mutation in ATP8B1. The patient's progression was associated with not only impaired familial intrahepatic cholestasis 1 (FIC1) function but also impaired bile salt export pump expression due to the impaired FIC1 function. Our findings show that patients with intermittent cholestasis can develop progressive liver disease even after several decades and require regular follow up.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Colestasis Intrahepática
/
Adenosina Trifosfatasas
/
Mutación Missense
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
World J Gastroenterol
Asunto de la revista:
GASTROENTEROLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Estados Unidos