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Medicina interna de México

Print version ISSN 0186-4866

Abstract

JARAMILLO-CALLE, DA.  and  ZAPATA-CARDENAS, A.. Advances in diagnosis and treatment of acute intermittent porphyria. Med. interna Méx. [online]. 2017, vol.33, n.5, pp.655-667. ISSN 0186-4866.  http://dx.doi.org/10.24245/mim.v33i5.1405.

Acute intermittent porphyria is the most frequent of the acute hepatic porphyrias. This is caused by mutations of autosomal dominant inheritance in the HMBS gene, which generate a deficiency of the enzyme porphobilinogen deaminase in the biosynthetic pathway of the heme group. It is characterized by potentially life-threatening neurovisceral symptoms, including abdominal pain, vomiting, constipation, muscle weakness and seizures. Such attacks are triggered by medications, fasting, alcohol, hormonal changes, stress, among others. Its treatment includes high carbohydrate loads, intravenous hemin, and medical support. Some patients who develop recurrent acute attacks may require prophylactic hemin or gonadotropin-releasing hormone analogs. Liver transplantation is indicated for patients refractory to those treatments. Chronic complications of the disease include hepatocellular carcinoma, hypertension, chronic kidney disease, and chronic pain.

Keywords : acute intermittent porphyria; diagnosis; treatment; prevention; neurogical symptoms; crisis.

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