Acute intermittent porphyria: diagnosis per chance.
Indian J Pathol Microbiol
;
2008 Oct-Dec; 51(4): 551-2
Artículo
en Inglés
| IMSEAR
| ID: sea-75010
ABSTRACT
OBJECTIVES:
To report a case of acute intermittent porphyria (AIP) diagnosed by chance during routine investigations. CLINICAL PRESENTATION AND INTERVENTION A 21-year-old female presented with vague gastrointestinal symptoms. Upon admission, she was disoriented. Later she developed generalized seizures and was treated with phenytoin, but the condition worsened. Upon investigation, her liver function, renal function, blood sugar level and electrolytes were within normal limits. When kept for routine laboratory testing, the color change in urine prompted us to investigate for porphyria. It was positive for phorphobilinogen (PBG) and urophorphyrin. Since AIP had been diagnosed, the initial treatment with phenytoin was discontinued with a favorable outcome. A screening test for PBG in urine by Ehrlich's reagent was performed on the patient's mother and was positive.CONCLUSION:
A high degree of suspicion at the laboratory can also determine the diagnosis of AIP, which is often missed by the clinician.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Fenitoína
/
Porfobilinógeno
/
Trastornos Psicóticos
/
Convulsiones
/
Femenino
/
Humanos
/
Resultado del Tratamiento
/
Porfiria Intermitente Aguda
/
Adulto
/
Adulto Joven
Idioma:
Inglés
Revista:
Indian J Pathol Microbiol
Año:
2008
Tipo del documento:
Artículo
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