Neurol. pro Praxi, 2001; 3: 147-152

Akútna intermitentná porfýria a prejavy poškodenia nervového systému

MUDr. Darina Buranová, Ph.D.1, prof. MUDr. Pavel Varsik, DrSc.1, MUDr. Marek Baláž2, MUDr. Peter Božek, Ph.D.3
1 I. neurologická klinika FNsP, Bratislava
2 Centrum pro abnormální pohyby a parkinsonismus, I. neurologická klinika LF MU, FN u sv. Anny, Brno
3 Oddelenie biochémie a hematológie Nemocnice MV SR, Bratislava, Slovenská republika

Published: December 31, 2001  Show citation

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Buranová D, Varsik P, Baláž M, Božek P. Akútna intermitentná porfýria a prejavy poškodenia nervového systému. Neurol. praxi. 2001;2(3):147-152.

V priebehu dvoch dekád sa nám podarilo zachytiť 10 prípadov akútnej intermitentnej porfýrie (AIP) s obrazom neurologickej symptomatológie. U všetkých prípadov rozvoj dynamiky poškodenia periférneho a centrálneho nervového systému umožnil stanovenie základnej diagnózy AIP. Až u 60 % prípadov sa vyskytli v úvode ochorenia abdominálne krízy s následnou laparoskopiou (operáciou), v 70 % prípadov dominovalo poškodenie periférneho nervového systému, v 50 % prípadov obraz psychoorganického syndrómu a u dvoch súrodencov bol súčasne výskyt familiárnej myoklonickej epilepsie. Konštatuje sa, že najväčším diagnostickým problémom je súčasný výskyt epileptických záchvatov a AIP ako dôsledok samotného ochorenia alebo náhodnej zhody viacerých ochorení.

Cieľom sdelenia je upozorniť na to, že nejasné prípady lézie periférneho nervového systému, psychoorganické syndrómy a nakoniec i prejavy epilepsie by mali byť dôvodom na vyšetrenie prípadnej metabolickej poruchy - AIP.

I. neurologická klinika FN a LFUK, Bratislava, Slovenská republika

Oddelenie biochémie a hematológie Nemocnice MV SR, Bratislava, Slovenská republika

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    References

    1. Aggarwal A, Quint DJ, Lynch III JP: MR Imaging of Porphyric Encephalopathy AJR, 162, 1994, 1218-1220.
    2. Birchfield RI, Cowger MI: Acute Intermittent Porphyria with Seizures. Amer. J. Dis. Child., 112, 1966, 561-565. Go to original source... Go to PubMed...
    3. Bylesjö I, Forsgren L, Lithner F, Boman K: Epidemiology and Clinical Characteristics of Seizures in Patients with Acute Intermittent Porphyria. Epilepsia, 37, 3, 1996, 230-235. Go to original source... Go to PubMed...
    4. Davidson R: Acute porphyria in an epileptic: British J. of Clin. Practice. 17, 1, 1963, 33-36. Go to original source...
    5. Desnick RJ, Ostaslewicz L, Tischler PA, Mustajoki P: Acute Intermittent Porphyria: Characterization of a Novel Mutation in the Structural Gene for Porphobilinogen Deaminase. Demonstration of Noncatalytic Enzyme Intermediates Stabilized by Bound Substrate. J. Clin. Investig., 76, 1985, 865-874. Go to original source... Go to PubMed...
    6. Elder G.H., Hift R.J., Meissner P.N.: The acute porphyrias. Lancet, 349, 1997, 1613-1617. Go to original source... Go to PubMed...
    7. Goldberg A, Rimington C: Disease of porphyrin metabolism. Springfield, IL: Charles C. Thomas, 1962, 64-106.
    8. Hahn M, Bonkovsky HL: Multiple Chemical Sensitivity Syndrome and Porphyria. Arch. Intern. Med., 157, 1997, 281-285. Go to original source... Go to PubMed...
    9. Jirsa, M. ml., Šperl, J., Bradová, V., Brodanová, M., Kaláb, M.: K laboratorní diagnostice nejčastějších porfyrií. Praktický lékař, 74, 1994, 11, 521-524.
    10. Kauppinen R, Mustajoki P: Prognosis of Acute Porhpyria: Occurence of Acute Attacks, Precipitating Factors and Associated Disease. Medicine, 71, 1, 1992, 1-13. Go to original source...
    11. Kreimer-Birnabum M, Bannerman RM, El Khatib M, Franco-Saenz R: AfroAmericans and acute intermittent porphyria. Int. J. Biochem. 12: 795-799, 1980. Go to original source... Go to PubMed...
    12. Kučera P.: Elektrofyziologické nálezy pri distálnej senzorimotorickej symetrickej diabetickej neuropatii. In: Krahulec B (edit.): Diabetická neuropatia. Bratislava, Lufema 1999: 65-70. Go to original source...
    13. Kučera P., Krahulec B., Štrbová L.: Skin sympathetic response in subclinical diabetic neuropathy. 5th Diabetic Neuropathy Satellite to the IDF Congress, Costa Rica 2000, Abstract book P4, 65. Go to original source...
    14. Louie GV, Brownlie PD, Lambert R, Cooper JB, Blundell TL, Wood SP, Warren MJ, Woodcock SC, Jordan PM: Structure of porphobilinigoen deaminase reveals a flexible multidomain polymerase with a single catalytic site. Nature 359: 33-39, 1992. Go to original source... Go to PubMed...
    15. Meyer UA, Strand LJ, Doss M, Rees AC, Marver HS: Intermittent acute porphyria-demonstration of a genetic defect in porphobilinogen metabolism. New Eng J Med, 286: 1277-1282, 1972. Go to original source... Go to PubMed...
    16. Mustajoki, E, Desnick RJ: Genetic heterogeneity in acute intermittent porhpyria: characterization and frequency of porphyrinogen deaminase mutations in Finland. British Medical Journal, 291, 1985, 505-509. Go to original source... Go to PubMed...
    17. Mustajoki S, Pihlaja H, Ahola H, Petersen NE, Mustajoki P, Kauppinen R: Three splicing defects, and two missense mutations responsible for acute intermittent porphyria. Hum. Genet., 102, 1998, 541-548. Go to original source... Go to PubMed...
    18. Ratnaike S, Blake D: Diagnosis and follow-up of porphyria. Pathology, 27, 1995, 142-153. Go to original source... Go to PubMed...
    19. Sassa S, Granick S, Bickers DR, Bradlow HL, Kappas A: A microassay for uroporphyrinogen I syntase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease. Proc. Nat. Acad. Sci. 71: 732-736, 1974. Go to original source... Go to PubMed...
    20. Stein JA, Tschudy DP: Acute intermittent porphyria. A clinical and biochemical study of 46 patients. Medicine, 49, 1970, 1-16. Go to original source... Go to PubMed...
    21. Strand LJ, Felsher BF, Redeker AG, Marver HS: Heme biosynthesis in intermittent acute porphyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity.
    22. Suarez JI, Cohen ML, Larkin J, Kernich, CA, Hricik DE, Daroff RB: Acute intermittent porphyria: Clinicopathologic correlation. Report of a case and review of the literature. Neurology, 48, 1997, 1678-1683. Go to original source... Go to PubMed...
    23. Wirtschafter J, Turner FW, Doe RS: Convulsive seizures as presenting manifestation of intermittent porphyria. Neurology, 10, 1960, 787-792. Go to original source... Go to PubMed...

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