Miroslav Mydlík, Katarína Derzsiová, Ľubomír Legáth, Ivica Bajusová, Katarína Šebeková
Within 35 years acute intermittent porphyria has been diagnosed in 16 patients (12 women, 4 men) and in 2 men with
variegate porphyria. All patients started treatment during an acute attack, related to abdominal pain. They were agitated
and had insomnia. Besides that, they had various neurological symptoms. A significant increase in the porphobilinogen
concentration in the urine (10.8 ± 5.8 mg/24 h; reference range: 0.1 – 1.7 mg/24h) is an unambiguous evidence of
acute intermittent porphyria. Hypertension was often present also during remission. A functional renal finding showed
evidence of tubulointerstitial kidney impairment in 11 patients (hyposthenuria and prolonging of excretion phase on
isotopic renogram). Erythropoietin deficit in the serum was present in 4 patients. Vitamin B6 in erythrocytes, significant
hyperoxalemia and hyperoxaluria, were detected in all patients. A close relationship between the oxalic acid in the
plasma and the effect of pyroxidal-5-phosphate, which is in an indirect relationship with vitamin B6 in erythrocytes,
was detected in acute intermittent porphyria. Hyperoxaluria with a large probability participated in kidney impairment
in 11 patients. The effective treatment of acute intermittent porphyria consisted in i.v. administration of hemarginate
(Normosang, Leiras, or Orphan Europe) 4-5 days, during an acute attack. Patients in the stage of disease remission
avoided the use of dangerous medicaments, which may induce a porphyric attack and were administered i.v. glucose,
phenothiazine and pyridoxine. The oxidative and carbonyl stress marker during the remission was normal and did not
show evidence of important oxidative stress in these patients.