RESUMO
A Hemocromatose Hereditária (HH) é a desordem hereditária mais comum em caucasianos. Mais de 90% dos casos de HH resultam da simples substituição do aminoácido Cisteína pela Tirosina no gene HFE. Essa mutação causa uma doença recessiva que resulta no acúmulo tissular de ferro. O mecanismo através do qual o HFE influencia a homeostase do ferro nas células e no corpo permanece obscuro. A doença é subdiagnosticada na população em geral devido à inespecificidade de sua apresentação clínica. O prognóstico envolve a detecção precoce da doença e a terapêutica adequada utilizando a flebotomia em fase oportuna. Essa revisão descreve os conceitos atuais a respeito das manifestações clínicas, fisiopatologia, prognóstico e tratamento da Hemocromatose Hereditária relacionada ao gene HFE.
Hereditary hemochromatosis (HH) is the most common inherited disorder in caucasians. Over 90% of the cases of HH result from a single mutation of a Cys to Tyr in the HFE gene. This mutation causes a recessive disease resulting in iron acumulation in selected tissues. The mechanism by which HFE influences iron homeostasis in cells and in the body remains elusive. The disease is underdiagnosed in general population due to inespecific clinical manifestations. Prognosis is related to early diagnostic and correct treatment using pheblotomy. This review describe the current concepts concerning the clinical features, pathophisiology, prognosis and treatment of HFE-related hemochromatosis hereditary.
Assuntos
Humanos , Sobrecarga de Ferro/genética , Proteína da Hemocromatose/genética , Hemocromatose/diagnóstico , Hemocromatose/genética , Hemocromatose/terapia , Mutação/genética , Brasil , Flebotomia/instrumentação , Desferroxamina/uso terapêutico , População Branca/genéticaRESUMO
BACKGROUND: Subclavian vein puncture is commonly performed to insert the pacing lead for permanent pacemaker implantation. Our aim was to study the safety and feasibility of venogram-guided extrathoracic subclavian vein puncture for permanent pacemaker lead insertion. METHODS AND RESULTS: Sixty patients (32 males, and 28 females) underwent permanent pacemaker lead insertion by extrathoracic subclavian vein puncture at our institute between March 2002 and December 2002. Fifteen patients underwent dual-chamber and 45 single-chamber pacemaker implantation. All the patients underwent extrathoracic subclavian vein puncture guided by venogram, except 1 who underwent dual-chamber pacemaker implantation in whom the ventricular lead insertion was via the cephalic vein on an elective basis. The procedure was successful in all the patients. Inadvertent subclavian artery puncture occurred in 2 patients without any complication. There was no incidence of pneumothorax, hemothorax or pacemaker site infection. CONCLUSIONS: Venogram-guided extrathoracic subclavian vein puncture is safe and successful. It may be adopted as one of the preferred approaches for permanent pacemaker lead insertion.