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Revista de la Asociación Médica del Centro Médico ABC

2004, Número 2

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An Med Asoc Med Hosp ABC 2004; 49 (2)


Porfirias agudas

Monroy SS

Idioma: Español
Referencias bibliográficas: 44
Paginas: 87-94
Archivo PDF: 72.83 Kb.


RESUMEN

Las porfirias agudas son un grupo de enfermedades metabólicas causadas por una falla autosómica heredada que produce defectos enzimáticos en la vía de formación del hem. Se caracterizan por la presencia de ácido d-aminolevulínico y/o porfobilinógeno en orina y porfirinas en orina y/o heces, que provocan alteraciones neurológicas, cutáneas o ambas. El patrón típico de la porfiria aguda intermitente consiste en una serie de ataques agudos con dolor abdominal intenso, náusea, vómito, constipación severa, alteraciones psiquiátricas y anormalidades neurológicas que pueden progresar a parálisis bulbar. La coproporfiria hereditaria es más rara que la porfiria aguda intermitente; las manifestaciones clínicas sistémicas y neuropáticas de ambas enfermedades son iguales, excepto que un tercio de los pacientes con coproporfiria cursan con fotosensibilidad cutánea extrema. La porfiria variegata, además de presentar fotosensiblidad, cursa con formación de bulas y vesículas, hiperpigmentación cutánea e hipertricosis; las lesiones cutáneas pueden ser la única manifestación clínica en este tipo de porfiria. Los factores de riesgo para el desarrollo de crisis agudas son la utilización de algunos medicamentos, ingesta de alcohol, dietas hipocalóricas o ayuno, infección o el ciclo menstrual. La administración de glucosa y hematínicos suprimen la actividad de la ácido δ-aminolevulínicosintetasa y previene o yugula los ataques agudos.


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