Acute intermittent porphyria: clinical study of 37 cases. / Porfiria aguda intermitente: estudo clínico de 37 casos.

AUTOR(ES)

Paula Marzorati Kuntz Puglia

DATA DE PUBLICAÇÃO

2001

RESUMO

Acute intermittent porphyria is an autosomal dominant disease, caused by a disturbance in the heme biosynthetic pathway, secondary to the reduction on the levels of uroporphyrinogen-I-synthetase enzyme. Clinical manifestations involve central and peripheral nervous system. The diagnosis is based on the elevated urinary excretion of porphyrins precursors d-aminolevulinic acid and porphobilinogen. The aim of this study was to analyze the clinical manifestations of acute intermittent porphyria in patients of the Hospital das Clínicas of São Paulo, seen between January 1979 and December 1999. 37 patients were studied, from 6 to 48 years old, with a rate of 2,7 women: 1 man. The age in which most of the crisis occurred was the third decade. The patients presented 63 crisis, and 13 of them presented also with chronic manifestations. The commonest clinical presentations were: abdominal pain, change in urine color, change in bowel habits, motor or sensory-motor deficit, vomiting, alteration of consciousness or mental confusion, convulsions, dysautonomic cardiovascular signs and psychiatric disorders. The crisis were classified as mild, moderate and severe, following criteria previously established. All chronic manifestations were characterized as mild. The peripheral motor or sensory-motor neuropathy was never the initial manifestation. Correlation was found between the kind and the number of precipitating factors, and the absence of peripheral neuropathy was in general related to just one factor, more commonly of endogenous endocrine or metabolic origin, like menstrual period and starvation, while in the crisis with peripheral neuropathy multiple factors were involved at the same time, these being of exogenous origin, like drugs. The most commonly used treatments were glucose administration, elevation of carbohydrate intake, and phenothiazines use.

ASSUNTO(S)

porfilia aguda intermitente/fisiopatologia acute intermitent porphyria/pathophysiology neurologic manifestations hidroximetilbilano sintase/deficiencia manifestações neurológicas hydroxymetilbilan (uroporphyrinogen-i) synthetase

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