Recurrence of extrahepatic biliary atresia in two half sibs

Abstract

Extrahepatic biliary atresia (EHBA) usually is a sporadic disorder. Familial cases, including occurrence in sibs and twins, have been reported. We report the first recurrence of EHBA in two half sibs born to a common father and unrelated mothers and suggest the possibility of gonadal mosaicism for a new dominant mutation.

The biliary atresia splenic malformation syndrome: A 28-year single-center retrospective study

“…Familial occurrence of BA, which would suggest a significant genetic component, has been reported only in small isolated racial groupings (eg, native American Indians), and to date all cases have been nonsyndromic. [46][47][48] Similarly, infants with chromosomal anomalies (eg, trisomy 18) and BA have been reported, 4,6,7,9 although these have also usually been non-BASM or associated with unusual anomalies, such as diaphragmatic hernia 49 and esophageal atresia. 50 Other genetic diseases, such as cat-eye syndrome (trisomy or tetrasomy 22pter q11), have also been noted.…”

Mother-to-daughter occurrence of biliary atresia: a case report

“…We have made a survey of the English literature concerning the familial occurrence of BA to accumulate 44 cases from 20 families [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. The pattern of occurrence was exclusively in the patient's brother or sister.…”

biliary atresia

“…Bu nedenle bazı araştırmacılar BA'de anormal HLA ekspresyonu üzerine odaklanmışlardır. BA'de bazı HLA alt gruplarının eksprese edildiği gös-terilmiştir; bunlar HLA-B12, HLACw4/7, HLA-B8, DR3, DR6, A33, B44 ve A9-B5, A28-B35 haplotiperidir (1,10,28,29) . Class II MHC (HLA-DR) antijenlerinin bilier traktüs epitelinden aşırı salınımı hücrelerin antijen prezente edici hücrelere dönüşmesini ve dolayısı ile T-hücre aktivasyonunu tetikleyebilir.…”