Deficiência de alfa-1-antitripsina

Deficiencia de alfa-1-antitripsina
Especialidade endocrinologia
Classificação e recursos externos
CID-10 E88.0
CID-9 273.4
CID-11 824872160
OMIM 613490
DiseasesDB 434
MedlinePlus 000120
eMedicine med/108
MeSH D019896
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A deficiência de alfa-1 antitripsina é uma doença genética autossómica recessiva, descrita pela primeira vez em 1963, de gravidade variável, relativamente rara.[1]

A alfa 1 antitripsina (A1-AT) é uma enzima proteica (fig.1) codificada por um gene localizado no braço longo do cromossoma 14 – 14q –, região 31-32.3. É produzida no fígado e tem como função inibir a elastase neutrofílica que, quando activa (a elastase neutrofílica), tem a capacidade de destruir o parênquima pulmonar através da hidrólise das fibras de elastina. Esta destruição do parênquima pulmonar, resulta em limitação do fluxo de ar nos pulmões, portanto a deficiência de A1-AT é um dos fatores determinantes na DPOC (doença pulmonar obstrutiva crônica).

Referências

  1. ↑ Aquiles A Camelier ; Daniel Hugo Winter ; José Roberto Jardim ; Carlos Eduardo Galvão Barboza ; Alberto Cukier ; Marc Miravitlles (julho de 2008). «Deficiência de alfa-1 antitripsina: diagnóstico e tratamento». Jornal Brasileiro de Pneumologia. Consultado em 29 de janeiro de 2012 

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