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Korean J Pediatr Gastroenterol Nutr. 2011 Mar;14(1):81-85. Korean.
Published online March 31, 2011.  https://doi.org/10.5223/kjpgn.2011.14.1.81
Copyright © 2011 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
Acute Intermittent Porphyria Presented with Recurrent Abdominal Pain and Hypertension
Mi Ran Park, M.D., Jeong Kee Seo, M.D., Jae Sung Ko, M.D., Ju Young Chang, M.D. and Hye Ran Yang, M.D.
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

Corresponding author (Email: kojs@snu.ac.kr )
Received July 30, 2010; Revised August 26, 2010; Accepted August 26, 2010.

Abstract

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.

Keywords: Acute intermittent porphyria; Recurrent abdominal pain; Hypertension; Hypercholesterolemia; Red urine

Figures


Fig. 1
Patient's urine was red in color (right) compared with normal urine (left).
Click for larger image

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