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Colegio de Medicina Interna de México.

2017, Number 5

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Med Int Mex 2017; 33 (5)

Advances in diagnosis and treatment of acute intermittent porphyria

Jaramillo-Calle DA, Zapata-Cárdenas A

Language: Spanish
References: 60
Page: 655-667
PDF size: 514.74 Kb.


ABSTRACT

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.


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