[Acute intermittent porphyria: actual problems of clinical and laboratory diagnosis].
On the case of 27 old woman with clinical symptoms of acute abdomen, severe electrolyte disturbances and attacks of grand mal seizures, different clinical masks and actual treatment guidelines of acute intermittent porphyria are presented. Among laboratory methods detecting precursors of hem in the urine, high-performance liquid chromatography (HPLC) as the most sensitive and specific method is recommended. Proper prophylaxis against new episodes of acute intermittent porphyria as well as long lasting ambulatory care of the patient are emphasized. Special attention should be paid to all close relatives of the patient, who need to be send to specialistic laboratories for exclusion of enzymatic defects of hem synthesis.
Zelichowski
G
G
Kliniki Nefrologii ze Stacja Dializ Centralnego Szpitala Klinicznego WAM, Warszawie.
Sosnowska
A
A
Tymowicz
J
J
Tutaj
A
A
Wańkowicz
Z
Z
D000328:Adult; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005260:Female; D006801:Humans; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis* / Q000652:urine*