A case of concomitant Gilbert's syndrome and hereditary spherocytosis / 대한간학회지
The Korean Journal of Hepatology
;
: 321-324, 2010.
Article
Dans Anglais
| WPRIM
| ID: wpr-100722
ABSTRACT
We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Sphérocytose héréditaire
/
Splénomégalie
/
Calculs biliaires
/
Glucuronosyltransferase
/
Analyse de séquence d'ADN
/
Structure tertiaire des protéines
/
Ankyrines
/
Électrophorèse sur gel de polyacrylamide
/
Allèles
/
Maladie de Gilbert
Limites du sujet:
Adulte
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
The Korean Journal of Hepatology
Année:
2010
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS