Acute intermittent porphyria (AIP) is the most prevalent form of porphyria, a rare autosomal dominant genetic disorder characterized by a defect in hydroxymethylbilane synthase (HMBS) in the heme biosynthetic pathway. This defect leads to the accumulation of porphyrins and their precursors in the body, resulting in tissue and organ damage. The penetrance of HMBS mutation is remarkably low, with less than 1% of carriers experiencing acute attacks triggered by specific factors.
In this particular case, the patient presented with recurrent episodes of acute AIP precipitated by infection. The clinical features were predominantly neurological and psychiatric, including peripheral neuropathy, seizure-like episodes involving the central nervous system, and manifestations related to autonomic dysfunction. Neurophysiological findings revealed involvement of both axons and myelin sheaths, primarily affecting the lower limbs. Brain magnetic resonance imaging performed during the late stage of seizures exhibited no discernible lesions, suggesting a presentation similar to posterior reversible encephalopathy syndrome (PRES). Autonomic symptoms mainly manifested as persistent nausea, vomiting, tenderness upon palpation of the lower abdomen, and tachycardia.
Upon confirmation of diagnosis, treatment comprised administration of hemin and high-carbohydrate therapy while incorporating rehabilitation exercises targeting limb function. Medications metabolized by P450 enzymes (such as barbitone, valproic acid, and metoclopramide) were avoided throughout the treatment process due to potential interactions or exacerbation of symptoms. Gradual improvement in muscle strength was observed during the patient’s course of treatment.
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