Phorphyria and pregnancy: a case report
DOI:
https://doi.org/10.18597/rcog.498Keywords:
porphyria, hem group, abdominal painAbstract
Porphyria is a rare congenital metabolism defect caused by alterations in the genes encoding heme group biosynthesis enzymes. Its clinical importance is mainly due to acute porphyrial crises which can lead to morbidity and mortality by the direct effects of the disease itself or via associated complications such as hyponatraemia. The pattern of attack in porphyrial pregnant women varies considerably between individual patients and individual pregnancies. A clinical case of a pregnant patient is described. She consulted as she was suffering from epigastric pain which was managed as peptic acid disease; this was then treated as acute intermittent porphyria.Author Biographies
Eduardo Contreras-Zúñiga
Médico Internista. Fundación Valle del Lili. Cali, Colombia. Correo electrónico: edo11@ hotmail.com
Sandra Ximena Zuluaga-Martínez
References
The European Porphyria Initiative. http://www.porphyria-europe.com/
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Desnick RJ. The Porphyrias. En: Kasper DL, Harrison TR. Harrison’s Principles of Internal Medicine. 16th edition. New York: McGraw Hill, Medical Pub; 2005. p. 2303-308.
Bonkovsky HL, Barnard GF. Diagnosis of porphyria syndromes: a practical approach in the era of molecular biology. Semin Liver Dis 1998;18:57-65.
Laiwah AC, McColl KE. Management of attacks of acute porphyria. Drugs 1987;34:604-16.
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