%0 Journal Article
%T Hemochromatosis Type I. Pathogenia and Diagnosis Hemocromatosis tipo I. Patogenia y diagn¨®stico
%A Ismael Aram¨ªs Cervera Garc¨ªa
%J MediSur
%D 2012
%I Centro Provincial de Informaci¨®n de las Ciencias M¨¦dicas en Cienfuegos
%X Hemochromatosis type 1 is a genetic disease characterized by high iron absorption at the intestinal crypts due to an alteration in their metabolism, causing progressive accumulation in a variety of organs. It should be diagnosed in pre-clinical stages through genetic and biochemical tests; some patients are diagnosed late, that is after symptoms appear which is considered to be a failure given that diagnosis during asymptomatic phase could prevent serious organs complications of the disease. Its incidence in Cuba has not been reported and, although molecular diagnostics have just been introduced in our context, it continues to be performed from patient's clinical characteristics and quantification of serum iron and ferritin, so that asymptomatic patients or carriers can not be identified yet. For all these reasons this review was conducted so that doctors know more about this condition and the means available for an appropriate diagnosis. La hemocromatosis tipo I es una enfermedad gen¨¦tica caracterizada por elevada absorci¨®n de hierro a nivel de las criptas intestinales debido a una alteraci¨®n en su metabolismo, que provoca su dep¨®sito progresivo en distintos ¨®rganos. Debe diagnosticarse en fases pre-cl¨ªnicas, mediante an¨¢lisis gen¨¦ticos o bioqu¨ªmicos; algunos pacientes se diagnostican tard¨ªamente, a partir de los s¨ªntomas, lo cual es un fracaso, pues hacerlo en fase asintom¨¢tica podr¨ªa evitar las complicaciones org¨¢nicas graves de la enfermedad. Su incidencia en Cuba no ha sido reportada y aunque recientemente se introdujo en el pa¨ªs el diagn¨®stico molecular, este contin¨²a realiz¨¢ndose mediante las caracter¨ªsticas cl¨ªnicas del paciente y la cuantificaci¨®n de hierro y ferritina s¨¦ricos, de forma que no se consigue identificar a los pacientes asintom¨¢ticos ni los portadores. Por tales razones se realiz¨® esta revisi¨®n para que los m¨¦dicos conozcan m¨¢s sobre este padecimiento y los medios disponibles para su correcto diagn¨®stico.
%K Hemocromatosis
%K diagn¨®stico
%U http://www.medisur.sld.cu/index.php/medisur/article/view/1727