급성 간헐성 포르피리아의 신경학적 증상

Abstract

Background : Acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by recurrent abdominal pain with neuropsychiatric symptoms and motor dominant polyneuropathy. The purpose of this study is to characterize neurological manifestations and clinical course of AIP in Korean. Methods : Medical records from 1984 to 2001 were reviewed retrospectively. There were 23 cases of laboratory confirmed AIP. Results : The clinical character-istics of AIP are the acute abdominal pain without fever or leukocytosis. Neuropsychiatric symptoms or polyneuropathy occurred in 13 cases (56.5%). Among the 13 cases, there were 4 cases with neuropsychiatric symptoms only, 3 with polyneuropathy only and 6 with both of them. Polyneuropathy was usually preceded by neuropsychiatric symptoms. Severe sensori-motor polyneuropathy with respiratory failure occurred in 4 cases, where one expired. Hyponatremia was seen in 14 cases (60.8%) and 7 of them had the neuropsychiatric symptoms. Conclusions : The clinical characteris-tics of AIP include acute abdominal pain without leukocytosis or fever, and hyponateremia. The neuropsychiatric symp-toms and peripheral neuropathy in AIP may occur by improper treatment for the acute abdominal pain, and can worsen by wrong treatment without clinical suspicion.