SciELO - Scientific Electronic Library Online

 
vol.39 número2Hallazgos clínicos y endoscópicos en pacientes con sarcoma de Kaposi cutáneo y compromiso gastrointestinal: Experiencia de un centro de Lima - Perú en los últimos 3 añosTumores sólidos pseudopapilares del páncreas en Costa Rica: serie de casos y revisión de tema índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

  • Não possue artigos citadosCitado por SciELO

Links relacionados

  • Não possue artigos similaresSimilares em SciELO

Compartilhar


Revista de Gastroenterología del Perú

versão impressa ISSN 1022-5129

Resumo

RAMIREZ-QUESADA, Wagner et al. ALFA-1 antitrypsin deficiency, a commonly missed cause of chronic liver disease in the adult: presentation of 9 cases with review of current literature. Rev. gastroenterol. Perú [online]. 2019, vol.39, n.2, pp.127-131. ISSN 1022-5129.

Introduction: 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. Materials and methods: 9 cases of confirmed a1AT deficiency are presented, from different ages ranging from adolescence through elderly patients. Results: 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. Conclusion: We comment about the management of the chronic liver disease and the evolution of these patients through time in the liver clinic.

Palavras-chave : Genetic diseases; inborn; Enzymes; Liver Diseases.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )

 

Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons