EXTRAHEPATIC BILIARY ATRESIA AND ASSOCIATED ANOMALIES - ETIOLOGIC HETEROGENEITY SUGGESTED BY DISTINCTIVE PATTERNS OF ASSOCIATIONS

被引:74
作者
CARMI, R
MAGEE, CA
NEILL, CA
KARRER, FM
机构
[1] UNIV MARYLAND,DEPT EPIDEMIOL & PREVENT MED,655 W BALTIMORE ST,BALTIMORE,MD 21201
[2] BEN GURION UNIV NEGEV,SOROKA MED CTR,CLIN GENET UNIT,IL-84105 BEER SHEVA,ISRAEL
[3] UNIV MARYLAND,DIV HUMAN GENET,BALTIMORE,MD 21201
[4] JOHNS HOPKINS UNIV,SCH MED,DIV PEDIAT CARDIOL,BALTIMORE,MD 21205
[5] UNIV COLORADO,SCH MED,DEPT SURG,DENVER,CO 80202
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 45卷 / 06期
关键词
EXTRAHEPATIC BILIARY ATRESIA; LATERALITY SEQUENCE; SITUS INVERSUS; POLYSPLENIA; ASSOCIATED ANOMALIES;
D O I
10.1002/ajmg.1320450606
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Fifty-one cases of extrahepatic biliary atresia (EHBA) with associated anomalies were found in a study of EHBA (251 cases). Analysis of segregation patterns of these anomalies in individual patients suggested the existence of 2 major groups: (1) 15 cases (29.4%) with various combinations of anomalies within the laterality sequence, and (2) 30 cases (58.8%) with one or 2 anomalies mostly involving the cardiac, gastrointestinal, and urinary systems. These latter anomalies did not follow any recognizable pattern. The third group of 6 cases all had intestinal malrotation, some with preduodenal portal vein; these cases show some similarity to the laterality sequence group and may represent a more confined phenotypic result of faulty situs determination. This previously unattempted classification of patients with EHBA and associated anomalies might enable a more targeted approach towards identification of causes in this heterogeneous disorder. EHBA within the laterality sequence might prove a suitable candidate for a major gene mutation. Teratogenic, infectious and polygenic multifactorial causes might play a more significant role in EHBA associated with ''nonsyndromic'' organ system anomalies.
引用
收藏
页码:683 / 693
页数:11
相关论文
共 90 条
[71]   CONGENITAL STRUCTURAL ABNORMALITIES IN BILIARY ATRESIA - EVIDENCE FOR ETIOPATHOGENIC HETEROGENEITY AND THERAPEUTIC IMPLICATIONS [J].
SILVEIRA, TR ;
SALZANO, FM ;
HOWARD, ER ;
MOWAT, AP .
ACTA PAEDIATRICA SCANDINAVICA, 1991, 80 (12) :1192-1199
[72]  
SOMMER A, 1976, CLIN PEDIATR, V15, P627, DOI 10.1177/000992287601500710
[73]   LIGATION OF THE COMMON BILE-DUCT IN THE FETAL LAMB - AN EXPERIMENTAL-MODEL FOR THE STUDY OF BILIARY ATRESIA [J].
SPITZ, L .
PEDIATRIC RESEARCH, 1980, 14 (05) :740-748
[74]   CONGENITAL BILIARY ATRESIA [J].
STOWENS, D .
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1963, 111 (01) :337-&
[75]  
STRAUSS L, 1972, Birth Defects Original Article Series, V8, P135
[76]   BILIARY ATRESIA IN 2 SETS OF TWINS [J].
STRICKLAND, AD ;
SHANNON, K ;
COLN, CD .
JOURNAL OF PEDIATRICS, 1985, 107 (03) :418-420
[77]   A CASE OF BILIARY ATRESIA AND POLYSPLENIA EVALUATION BY HEPATOBILIARY SCINTIGRAPHY [J].
SULLIVAN, RF ;
MADELL, SJ ;
OATES, E ;
SARNO, RC .
CLINICAL NUCLEAR MEDICINE, 1987, 12 (01) :55-56
[78]   ABNORMAL CILIA IN A CHILD WITH THE POLYSPLENIA SYNDROME AND EXTRA-HEPATIC BILIARY ATRESIA [J].
TEICHBERG, S ;
MARKOWITZ, J ;
SILVERBERG, M ;
AIGES, H ;
SCHNEIDER, K ;
KAHN, E ;
DAUM, F .
JOURNAL OF PEDIATRICS, 1982, 100 (03) :399-401
[79]  
TORIELLO HV, 1986, AM J MED GENET S, V2, P31
[80]  
TOULOUKIAN R J, 1978, Clinics in Perinatology, V5, P3