Background. Acute intermittent porphyria (AIP) is a rare, hereditary, metabolic disease caused by a defect in heme biosynthesis. Hormonal changes may trigger porphyria attacks.Case. Here we present a 17 -year- old adolescent refugee mother who applied to the pediatric emergency department with the complaint of diffuse abdominal pain at puerperium. The patient was hypertensive, and had convulsions after admission. Hyponatremia (serum sodium; 121 meq/L) was detected, and syndrome of inappropriate anti-diuretic hormone secretion (SIADH) was found to be the cause of hyponatremia which responded well to fluid restriction. Infectious, autoimmune and toxicologic laboratory work-up did not reveal any specific pathologies. Despite prompt utilization of analgesic treatment, the patient continued to have unbearable abdominal pain. The preference of prone position to relieve the pain and the family history of a mother who had died with similar symptoms, led us to the diagnosis of AIP. Genetic analysis showed a heterozygous mutation in hydroxymethylbilane synthase (HMBS) gene (c160+6T>A) which confirmed our diagnosis.Conclusion. Acute porphyrias should be considered in differential diagnosis of abdominal pain, especially when there are accompanying symptoms like hyponatremia, seizures, mental changes and hypertension.
___
1. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet 2010; 375: 924-937.
2. Stein PE, Badminton MN, Rees DC. Update review of the acute porhyrias. Br J Haematol 2017; 176: 527- 538
3. Balwani M, Singh P, Seth A, et al. Acute intermittent porphyria in children: a case report and review of the literature. Mol Genet Metab 2016; 119: 295-299.
4. Andersson C, Lithner F. Hypertension and renal disease in patients with acute intermittent porphyria. J Intern Med 1994; 236: 169-175.
5. Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet 2015; 8: 201-214.
6. Bylesjö I, Wikberg A, Andersson C. Clinical aspects of acute intermittent porphyria in northern Sweden: a population-based study. Scand J Clin Lab Invest 2009; 69: 612-618.
7. Granick S. The induction in vitro of the synthesis of delta-aminolevulinic acid synthetase in chemical porphyria: a response to certain drugs, sex hormones, and foreign chemicals. J Biol Chem 1966; 241: 1359-1375.
8. Andersson C, Innala E, Backstrom T. Acute intermittent porphyria in women: clinical expression, use and experience of exogenous sex hormones. A population-based study in northern Sweden. J Intern Med 2003; 254: 176-183.
9. Meersseman W, Cassiman S, Goossens W, Vanderschueren S. An unusual cause of syndrome of inappropriate antidiuretic hormone secretion. Acta Clin Belg 2008; 63: 277-280.
10. Li Y, Qu H, Wang H, Deng H, Liu Z. Novel A219P mutation of hydroxymethybilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone. Ann Hum Genet 2015; 79: 310-312.
11. Singh PS, Rawat R, Zafar KS. Acute intermittent porphyria with syndrome of inappropriate antidiuretic hormone secretion (SIADH) and neurological crisis, successfully treated with hemodialysis. Int J Res Med Sci 2014; 2: 795-797.