Korean J Pediatr Gastroenterol Nutr.  2011 Mar;14(1):81-85. 10.5223/kjpgn.2011.14.1.81.

Acute Intermittent Porphyria Presented with Recurrent Abdominal Pain and Hypertension

• Park MR
• Seo JK
• Ko JS
• Chang JY
• Yang HR

• KMID: 1451210
• DOI: http://doi.org/10.5223/kjpgn.2011.14.1.81

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.

Keyword

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

MeSH Terms

Abdominal Pain
Adolescent
Aminolevulinic Acid
Constipation
Diagnosis, Differential
Humans
Hypercholesterolemia
Hypertension
Nausea
Peripheral Nervous System Diseases
Porphobilinogen
Porphyria, Acute Intermittent
Porphyrins
Seizures
Tachycardia
Vomiting
Aminolevulinic Acid
Porphobilinogen
Porphyrins

Figure

• 

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

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