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Colegio de Medicina Interna de México.

2017, Número 5

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Med Int Mex 2017; 33 (5)


Avances en el diagnóstico y tratamiento de la porfiria intermitente aguda

Jaramillo-Calle DA, Zapata-Cárdenas A

Idioma: Español
Referencias bibliográficas: 60
Paginas: 655-667
Archivo PDF: 514.74 Kb.


RESUMEN

La porfiria intermitente aguda es la más frecuente de las porfirias hepáticas agudas. Ésta es causada por mutaciones de herencia autosómica dominante en el gen HMBS, que generan déficit de la enzima porfobilinógeno desaminasa en la vía biosintética del grupo hemo. Se caracteriza por síntomas neuroviscerales potencialmente letales, que incluyen dolor abdominal, vómito, estreñimiento, debilidad muscular, convulsiones. Estos ataques son desencadenados por medicamentos, ayuno, alcohol, cambios hormonales, estrés, entre otros. Su tratamiento incluye altas cargas de carbohidratos, hemina intravenosa y soporte médico. Algunos pacientes que padecen ataques agudos recurrentes pueden requerir hemina profiláctica o análogos de la hormona liberadora de gonadotropina. El trasplante hepático está indicado para los pacientes resistentes a esos tratamientos. Las complicaciones crónicas de la enfermedad incluyen carcinoma hepatocelular, hipertensión arterial, enfermedad renal crónica y dolor crónico.


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