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Porfiria

Porfiria

Introducción

Las porfirias son un grupo de trastornos genéticos causados por problemas con la forma en que el cuerpo produce una sustancia llamada hemo. El hemo se encuentra en todo el cuerpo, especialmente en la sangre y en la médula ósea, donde transporta oxígeno.
Existen dos tipos principales de porfirias: Uno es el que afecta la piel (cutáneo) y el otro es el que afecta el sistema nervioso. Las personas que tienen porfiria cutánea desarrollan ampollas, picazón e inflamación en la piel cuando se exponen al sol. El tipo de porfiria que afecta al sistema nervioso se llama porfiria aguda. Los síntomas incluyen dolor en el pecho, abdomen, brazos o piernas, espalda, adormecimiento de los músculos, hormigueo, parálisis o calambres, vómitos, estreñimiento y cambios mentales o en la personalidad. Estos síntomas pueden aparecer y desaparecer.
Algunos desencadenantes pueden causar una crisis, como ciertas medicinas, el cigarrillo, el consumo de alcohol, las infecciones, el estrés y la exposición al sol. Las crisis se desarrollan en horas o días. Pueden durar días o semanas.
La porfiria puede ser difícil de diagnosticar. Requiere de exámenes de sangre, orina y heces. Cada tipo tiene un tratamiento diferente. Parte de este es evitar los desencadenantes. También puede incluir tratamiento con hemo (hematina) a través de una vena, medicamentos para aliviar los síntomas o extracción de sangre para reducir la cantidad de hierro en el cuerpo. Las personas que presentan varios episodios quizás deban ser internadas.
NIH: Instituto Nacional de la Diabetes y las Enfermedades Digestivas y Renales

https://medlineplus.gov/spanish/porphyria.html

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