Document Detail


Complete absence of bile and pancreatic ducts in a newborn: a new entity of congenital anomaly in hepato-pancreatic development.
MedLine Citation:
PMID:  12838397     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We examined a newborn who had no bile and pancreatic ducts. Hydrops was evident after 29 weeks of gestation and she died shortly after birth, weighing 1,368 g. One of her siblings had died of hydrops at about six months of gestation, and there were two more miscarriages of unknown cause. At autopsy on the newborn, the liver had an abnormally round shape and the pancreas was not in the normal position. There was an ectopic small pancreas with normally developed islets. Histological analysis revealed the complete absence of extra- and intra-hepatic bile and pancreatic ducts. Immunostaining of these tissues showed no positive bile duct marker staining using epithelial membrane antigen and cytokeratin 19 in the liver. Albumin and alpha-fetoprotein staining was positive in the liver, and insulin and glucagon staining was positive in the remaining islets. Thus, this case is characterized by complete absence of bile and pancreatic ducts. These findings suggest the existence of a gene linked to the development of bile and pancreatic ducts.
Authors:
Kimitoshi Nakamura; Hiroshi Mitsubuchi; Haruhiko Miyayama; Koichi Yatsunami; Junji Ishimatsu; Tetsuro Yamamoto; Fumio Endo
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-06-28
Journal Detail:
Title:  Journal of human genetics     Volume:  48     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2003  
Date Detail:
Created Date:  2003-08-11     Completed Date:  2003-10-06     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  380-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Kumamoto University School of Medicine, 1-1-1 Honjo, Kumamoto 860-8556, Japan. kimnak@kaiju.medic.kumamoto-u.ac.jp
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Bile Ducts / abnormalities*,  embryology
Biliary Atresia / genetics,  pathology*
Female
Humans
Immunohistochemistry
Infant, Newborn
Keratins / metabolism
Male
Mucin-1 / metabolism
Pancreas / abnormalities,  embryology
Pancreatic Ducts / abnormalities*
Pedigree
Chemical
Reg. No./Substance:
0/Mucin-1; 68238-35-7/Keratins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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