Document Detail

Cystinosis as a cause of noncirrhotic portal hypertension.
MedLine Citation:
PMID:  16047489     Owner:  NLM     Status:  MEDLINE    
Cystinosis is a rare autosomal recessive storage disorder, characterized by the abnormal accumulation of cystine in cellular lysosomes. This accumulation, which can occur in any organ system, leads to crystallization of trapped cystine and ultimately cellular death. Hepatic manifestations of Cystinosis although rare, have been described in the literature. However, to our knowledge, only one other case of non-cirrhotic portal hypertension secondary to cystine accumulation in Kupffer cells has been reported. In this case and ours, portal hypertension was found in the absence of bridging fibrosis. Furthermore, in our case, for the majority of the patient's course, hepatic synthetic function remained normal. Cysteamine is therapeutic in this disorder, and can lead to significant removal of cystine, and thus to reversibility of disease, however, it requires high doses and must be taken regularly. Porto-systemic shunting in combination with aggressive medical therapy could potentially benefit patients who develop non-cirrhotic portal hypertension in this clinical setting.
Simona Rossi; Steven K Herrine; Victor J Navarro
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Digestive diseases and sciences     Volume:  50     ISSN:  0163-2116     ISO Abbreviation:  Dig. Dis. Sci.     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-07-28     Completed Date:  2005-08-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7902782     Medline TA:  Dig Dis Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1372-5     Citation Subset:  AIM; IM    
Department of Gastroenterology and Hepatology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania 19107, USA.
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MeSH Terms
Cysteamine / therapeutic use
Cystinosis / complications*,  drug therapy,  pathology
Fatal Outcome
Hypertension, Portal / etiology*,  surgery
Portasystemic Shunt, Transjugular Intrahepatic
Reg. No./Substance:

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