Cholelithiasis and Gilbert's syndrome in homozygous β-thalassaemia

被引：64

作者：

Galanello, R ^{[1
]}

Piras, S ^{[1
]}

Barella, S ^{[1
]}

Leoni, GB ^{[1
]}

Cipollina, MD ^{[1
]}

Perseu, L ^{[1
]}

Cao, A ^{[1
]}

机构：

[1] Univ Cagliari, Osped Reg Microcitemie, Dipartimento Sci Biomed & Biotecnol, I-09121 Cagliari, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2001年 / 115卷 / 04期

关键词：

cholelithiasis; Gilbert's syndrome; beta-thalassaemia; UGT1-A1; hyperbilirubinaemia;

D O I：

10.1046/j.1365-2141.2001.03200.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Cholelithiasis has been reported with a variable incidence in homozygous beta-thalassaemia, the reasons for which have only partially been defined. Disease-associated factors or specific modifier genes may be implicated. We assessed the prevalence of cholelithiasis and the effect of co-inherited Gilbert's syndrome genotype on its development in 261 thalassaemia major (TM) and 35 thalassaemia intermedia (TI) patients. Cholelithiasis was found in 20.3% of TM and in 57.1% of TI patients. Its incidence was higher (P < 0.05) in patients homozygous for the (TA(7)) motif In the promoter of the UGT1-A1 gene, the genotype associated with Gilbert's syndrome, which seems to be a risk factor for the development of gallstones in TM and TI patients.

引用

页码：926 / 928

页数：3

共 11 条

[1] CHOLELITHIASIS IN CHILDREN WITH THALASSEMIA MAJOR - AN ULTRASONOGRAPHIC STUDY [J].

BORGNAPIGNATTI, C ;

DESTEFANO, P ;

PAJNO, D ;

TOMASI, G ;

GATTI, C .

JOURNAL OF PEDIATRICS, 1981, 99 (02) :243-244

[2] THE GENETIC-BASIS OF THE REDUCED EXPRESSION OF BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE-1 IN GILBERTS-SYNDROME [J].

BOSMA, PJ ;

CHOWDHURY, JR ;

BAKKER, C ;

GANTLA, S ;

DEBOER, A ;

OOSTRA, BA ;

LINDHOUT, D ;

TYTGAT, GNJ ;

JANSEN, PLM ;

ELFERINK, RPJO ;

CHOWDHURY, NR .

NEW ENGLAND JOURNAL OF MEDICINE, 1995, 333 (18) :1171-1175

[3] Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis [J].

del Giudice, EM ;

Perrotta, S ;

Nobili, B ;

Specchia, C ;

d'Urzo, G ;

Iolascon, A .

BLOOD, 1999, 94 (07) :2259-2262

[4] CHOLELITHIASIS IN THALASSEMIA MAJOR [J].

DEWEY, KW ;

GROSSMAN, H ;

CANALE, VC .

RADIOLOGY, 1970, 96 (02) :385-&

[5] POSSIBLE ROLE OF A DEFECT IN HEPATIC BILIRUBIN GLUCURONIDATION IN THE INITIATION OF CHOLESTEROL GALLSTONES [J].

DUVALDESTIN, P ;

MAHU, JL ;

METREAU, JM ;

ARONDEL, J ;

PREAUX, AM ;

BERTHELOT, P .

GUT, 1980, 21 (08) :650-655

[6]

Galanello R, 1999, HAEMATOLOGICA, V84, P103

[7] Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome [J].

Galanello, R ;

Perseu, L ;

Melis, MA ;

Cipollina, L ;

Barella, S ;

Giagu, N ;

Turco, MP ;

Maccioni, O ;

Cao, A .

BRITISH JOURNAL OF HAEMATOLOGY, 1997, 99 (02) :433-436

[8] HIGH-INCIDENCE OF CHOLELITHIASIS IN OLDER PATIENTS WITH HOMOZYGOUS BETA-THALASSEMIA [J].

GOLDFARB, A ;

GRISARU, D ;

GIMMON, Z ;

OKON, E ;

LEBENSART, P ;

RACHMILEWITZ, EA .

ACTA HAEMATOLOGICA, 1990, 83 (03) :120-122

[9] The incidence of gallbladder stones and gallbladder function in beta-thalassemic children [J].

Kalayci, AG ;

Albayrak, D ;

Günes, M ;

Incesu, L ;

Agaç, R .

ACTA RADIOLOGICA, 1999, 40 (04) :440-443

[10]

SCUTELLARI PN, 1981, MINERVA PEDIATR, V33, P983

← 1 2 →