E-resources
-
Ramírez-Quesada, Wagner; Hevia-Urrutia, Francisco; Rojas-Alvarado, Marlon; Brenes-Pino, Fernando; Alfaro-Alcocer, Eduardo; Sauma-Rodríguez, Johanna; Saborío-Rocafort, Manuel; Jiménez-Hernández, Mildred; Camacho-Matamoros, Natassia; Alvarado-Romero, Danny
Revista de gastroenterología del Perú, 2019 Apr-Jun, 20190401, Volume: 39, Issue: 2Journal Article
Alfa 1-antitrypsin deficiency is one of the most prevalent genetic diseases in the human being, sadly it is not a commonly suspected clinical entity. With more than 100 known mutations, those associated with hepatic disease are the Z homocygote allele mutations in the gene a1AT which occur in every 2000-3500 births. Opposing to the pulmonary disease, in which de sequelae are caused by the deficit of this protein which in turn fastens the enzymatic destruction of the airway microstructure, the hepatic compromise is secondary to the intracellular accumulation of the aberrant misfolded protein. This accumulation causes cellular damage, hepatitis, fibrosis, cirrhosis and hepatocellular carcinoma through activation of a series of mechanisms which culminate in hepatocitary apoptosis, regeneration and chronic cellular injury. 9 cases of confirmed a1AT deficiency are presented, from different ages ranging from adolescence through elderly patients. Each of one of them with different clinical presentation going from asymptomatic liver enzyme elevations to transplanted cirrhosis in which the diagnosis was post procedural. We comment about the management of the chronic liver disease and the evolution of these patients through time in the liver clinic.
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.