Document Detail


Cystinosis as a cause of noncirrhotic portal hypertension.
MedLine Citation:
PMID:  16047489     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Simona Rossi; Steven K Herrine; Victor J Navarro
Related Documents :
21119489 - Huge maxillofacial teratomas.
12633199 - A grading system for nasal dorsal deformities.
12715029 - Multiple systemic metastases of posterior fossa - primitive neuroectodermal tumor (pf-p...
23291329 - Recurrent right sublingual ranula, concomitant with ipsilateral submandibular salivary ...
23497319 - Annual acknowledgement of manuscript reviewers.
18655339 - Predictable aesthetic replacement of a metal-ceramic crown using cad/cam technology: a ...
9842649 - Paraganglioma of the vagina: the first report of a rare tumor in a child.
18840199 - Two cases of epidural anesthesia-associated postoperative decubitus.
9084529 - Recurrent epistaxis following nasotracheal intubation--a case report.
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    
Affiliation:
Department of Gastroenterology and Hepatology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania 19107, USA. skoprossi@yahoo.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Cysteamine / therapeutic use
Cystinosis / complications*,  drug therapy,  pathology
Fatal Outcome
Humans
Hypertension, Portal / etiology*,  surgery
Male
Portasystemic Shunt, Transjugular Intrahepatic
Chemical
Reg. No./Substance:
60-23-1/Cysteamine

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


Previous Document:  Hepatitis C virus core protein modulates fatty acid metabolism and thereby causes lipid accumulation...
Next Document:  Genetic polymorphisms of GSTT1, GSTM1, GSTP1, MnSOD, and catalase in nonhereditary chronic pancreati...