16세 여아에서 복통, 구토, 고혈압, 경련 및 고지혈증을 보였던 급성 간헐성 포르피린증 1예를 경험하였기에 보고하는 바이다. 소아에서 원인을 알 수 없는 복통에 고혈압, 경련 등 특징적 포르피리아 증상이 동반된 경우에 반드시 급성 간헐성 포르피린증을 고려해야 한다.
Acute intermittent porphyria (AIP) is a rare disorder characterized biochemically by the increased excretion of porphyrins and porphyrin precursors, including delta-aminolevulinic acid (ALA) and porphobilinogen (PBG). AIP has variable clinical manifestations, such as acute abdominal pain, vomiting, nausea, constipation, peripheral neuropathy, seizures, tachycardia, and hypertension. A 16-year-old girl presented with recurrent abdominal pain, vomiting, hypertension, seizures, hypercholesterolemia, and red urine. AIP was confirmed by clinical features and increased 24-hour urine ALA and PBG. AIP should be considered in the differential diagnosis of patients who have abdominal pain, hypertension, and seizures when the results of all other tests are normal.
