Document Detail


Alpha 1-antitrypsin deficiency and the PiMS phenotype: case report and literature review.
MedLine Citation:
PMID:  2659760     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a premature infant with cholestatic liver disease and protease inhibitor MS phenotype. This infant demonstrated an abnormally low serum alpha 1-antitrypsin concentration. Liver histologic studies revealed diastase-resistant, periodic acid-Schiff-positive globules inside hepatocytes. Immunoperoxidase staining for alpha 1-antitrypsin was positive. Electron microscopy showed amorphous material in the dilated lumina of the endoplasmic reticulum. These findings are characteristic of alpha 1-antitrypsin deficiency. We suggest that this usually nonpathologic phenotype resulted in cholestatic liver disease because of the cumulative effect of several cholestatic conditions.
Authors:
M F Gourley; G R Gourley; E F Gilbert; G B Odell
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Journal of pediatric gastroenterology and nutrition     Volume:  8     ISSN:  0277-2116     ISO Abbreviation:  J. Pediatr. Gastroenterol. Nutr.     Publication Date:  1989 Jan 
Date Detail:
Created Date:  1989-07-25     Completed Date:  1989-07-25     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8211545     Medline TA:  J Pediatr Gastroenterol Nutr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  116-21     Citation Subset:  IM    
Affiliation:
Department of Medicine, University of Wisconsin School of Medicine, Madison.
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MeSH Terms
Descriptor/Qualifier:
Cholestasis / pathology*
Female
Humans
Infant
Liver Diseases / pathology*
Phenotype
alpha 1-Antitrypsin Deficiency*
Grant Support
ID/Acronym/Agency:
AM 01077/AM/NIADDK NIH HHS; AM 21668/AM/NIADDK NIH HHS; HD 03352/HD/NICHD NIH HHS

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


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