Acute intermittent porphyria – A case report

Milić Veljović; Tatjana Vulović; Aleksandra Ristanović; Rade Vuković

doi:10.2298/VSP190613094V

Milić Veljović Military Medical Academy, Clinic for Anesthesiology and Intensive Care, Belgrade, Serbia
Tatjana Vulović University of Kragujevac, Faculty of Medical Sciences, Kragujevac, Serbia
Aleksandra Ristanović Military Medical Academy, Clinic for Anesthesiology and Intensive Care, Belgrade, Serbia
Rade Vuković Military Medical Academy, Clinic for Anesthesiology and Intensive Care, Belgrade, Serbia

DOI: https://doi.org/10.2298/VSP190613094V

Ključne reči: dijagnoza, diferencijalna, neurološke manifestacije, porfirija, porfirija, akutna, intermitentna, porfobilnogen, faktori rizika, lečenje, ishod

Sažetak

Uvod. Akutna intermitentna porfirija je redak nasledni metabolički poremećaj uzrokovan nedostatkom porfobilinogen deaminaze. Posledično nakupljanje međuproizvoda u nervnim strukturama dovodi do trijasa kliničkih simptoma: bol u trbuhu, neurološki ispadi i psihijatrijski poremećaji. Prikaz bolesnika. Dvanaest dana nakon resekcije debelog creva u lokalnoj bolnici, 22-godišnja bolesnica primljena je u jednicu intenzivnog lečenja zbog konvulzija, epizoda slepila i progresivne razvojne kvadripareze, bulbarne paralize i respiratorne insuficijencije. Dijagnoza je postavljena na osnovu visokog nivoa porfobilinogena u mokraći. Prethodna upotreba oralnih kontraceptiva, antidepresiva i tiopentala kao indukcionog agensa u opštoj anesteziji mogli su biti precipitirajući faktori. Bolesnica je lečena konzervativno visokim unosom ugljenih hidrata i humanim heminom. Šest meseci posle prijema prebačena je na Odeljenje fizikalne medicine i rehabilitacije. Zaključak. Postavljanje rane dijagnoze je osnovni korak uspešnog lečenja napada akutne intermitentne porfirije. Sledeći korak podrazumeva adekvatnu terapiju, praćenje i prevenciju nastanka ponovnih napada.

Reference

Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med 2017; 377(9): 862‒72.

Nordmann Y, Puy H, Da Silva V, Simonin S, Robreau AM, Bonai-ti C, et al. Acute intermittent porphyria: prevalence of muta-tions in the porphobilinogen deaminase gene in blood donors in France. J Intern Med 1997; 242(3): 213‒7.

Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013; 36(5): 849‒57.

Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Ya-suda M, et al. Acute Intermittent Porphyria: Predicted Patho-genicity of HMBS Variants Indicates Extremely Low Pene-trance of the Autosomal Dominant Disease. Hum Mutat 2016; 37(11): 1215‒22.

Naik H, Stoecker M, Sanderson SC, Balwani M, Desnick RJ. Ex-periences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. Mol Genet Metab 2016; 119(3): 278‒83.

Andersson C, Floderus Y, Wikberg A, Lithner F. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. Scand J Clin Lab In-vest 2000; 60(7): 643‒8.

Liu YP, Lien WC, Fang CC, Lai TI, Chen WJ, Wang HP. ED presentation of acute porphyria. Am J Emerg Med 2005; 23(2): 164‒7.

Kumar S, Sharma N, Modi M, Sharma A, Mahi S, Varma S. Spectrum of emergency department presentation in patients of acute intermittent porphyria: experience from a North Indian tertiary care center. Neurol India 2010; 58(1): 95‒8.

Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005; 142(6): 439‒50.

Deacon AC, Peters TJ. Identification of acute porphyria: Evalu-ation of a commercial screening test for urinary porphobilino-gen. Ann Clin Biochem 1998; 35 (Pt 6):726.

Harper P, Wahlin S. Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. Curr Treat Options Gastroenterol 2007; 10(6): 444‒55.

Anderson KE, Bonkovsky HL, Bloomer JR, Shedlofsky SI. Recon-stitution of hematin for intravenous infusion. Ann Intern Med 2006; 144(7): 537‒8.

Stewart MF. Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. J Clin Pathol 2012; 65(11): 976‒80.

Innala E, Andersson C. Screening for hepatocellular carcinoma in acute intermittent porphyria: a 15-year follow-up in north-ern Sweden. J Intern Med 2011; 269(5): 538‒45.