[A case of acute intermittent porphyria].
A case of an acute attack of porphyria acuta intermittens is presented. A patient was admitted with severe abdominal pain and hypertension. He had excessive excretion of porphobilinogen (PBG) and aminolaevulinicacid (ALA) in the urine and a reduced activity of ery-PBG deaminase (PBGD). The patient was not aware that he was a member of a large "porphyria-family". DNA-analysis showed that he had a hitherto underscribed G to A mutation. This paper shows: 1) The importance of family studies: 2) The risk of developing neurogenic attacks among gene carriers if exposed to precipitating factors. 3) The significance of having the diagnosis of porphyria in mind in every uncertain case of abdominal pain, progressive paresis and psychiatric disease.
Nielsen
K R
KR
Medicinsk afdeling, Landssygehuset, Tórshavn.
D006801:Humans; D008297:Male; D008875:Middle Aged; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000235:genetics
Et tilfaelde af akut intermitterende porfyri.