Cystinosis as a cause of noncirrhotic portal hypertension.
Publication/Presentation Date
7-1-2005
Abstract
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.
Volume
50
Issue
7
First Page
1372
Last Page
1375
ISSN
0163-2116
Published In/Presented At
Rossi, S., Herrine, S. K., & Navarro, V. J. (2005). Cystinosis as a cause of noncirrhotic portal hypertension. Digestive diseases and sciences, 50(7), 1372–1375. https://doi.org/10.1007/s10620-005-2789-0
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
16047489
Department(s)
Administration and Leadership
Document Type
Article