Abstract |
Niemann-Pick disease ( NPD) is a rare syndrome caused by abnormal intracellular sphingomyelin lipid storage in cells known as "Pick cells." NPD can start in childhood or develop insidiously, with a predilection for reticuloendothelial cells and the nervous system. NPD is a heterogeneous clinical, and biomolecular disorder which has 6 variants. There is no curable treatment for NPD. Generally, the treatment for all types of Niemann-Pick disease is to support. Type B NPD ( NPD-B) is mostly characterized by hepatosplenomegaly, which can evolve to hepatic cirrhosis. In patients who progress to liver failure, liver transplantation may be improve liver function. The Transplant Service of Hospital Universitário Walter Cantídio performed its first liver transplants in patients with NPD-B with good results, demonstrating the efficacy of this procedure in selected cases.
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Authors | G R Coelho, A M Praciano, J P C Rodrigues, C F G Viana, K P Brandão, J T Valenca Jr, J H P Garcia |
Journal | Transplantation proceedings
(Transplant Proc)
Vol. 47
Issue 10
Pg. 2929-31
(Dec 2015)
ISSN: 1873-2623 [Electronic] United States |
PMID | 26707316
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2015 Elsevier Inc. All rights reserved. |
Topics |
- Adult
- Female
- Hepatomegaly
(etiology, surgery)
- Humans
- Liver Failure
(etiology, surgery)
- Liver Transplantation
- Male
- Niemann-Pick Disease, Type B
(complications, surgery)
- Splenomegaly
(etiology, surgery)
- Treatment Outcome
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