[Acute porphyrias: problem of primary diagnosis in Russia and CIS countries].
OBJECTIVE
To analyse manifestations and experience in primary screening diagnosis of acute porphyrias which are rarely encountered and little known by general practitioners.


METHODS
The data on 100 patients with the diagnosis acute porphyria have been analysed. Porphyrin metabolism in differential diagnosis was estimated according to standard techniques.


RESULTS
Analysis of primary diagnosis of acute porphyria hepatica in Russia (region-related prevalence, duration of diagnosis, complications because of late pathogenetic treatment) demonstrates the importance of screening diagnosis of acute porphyria at the level of municipal clinics.


CONCLUSIONS
Early diagnosis prevents severe complications of acute porphyria and reduces cost of examinations in search of accurate diagnosis.
Karpova
I V
IV
Pustovoĭt
Ia S
IaS
Luchinina
Iu A
IuA
Surin
V L
VL
Luk'ianenko
A V
AV
Kravshenko
S K
SK
Kremenetskaia
A M
AM
D000293:Adolescent; D000328:Adult; D000622:Aminolevulinic Acid / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000378:metabolism; D008297:Male; D008403:Mass Screening / Q000379:methods*; D008875:Middle Aged; D011162:Porphobilinogen / Q000378:metabolism; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis* / Q000378:metabolism; D011166:Porphyrins / Q000097:blood; D012189:Retrospective Studies; D012426:Russia; D013053:Spectrophotometry
D011166:Porphyrins; D011162:Porphobilinogen; D000622:Aminolevulinic Acid; D011163:Hydroxymethylbilane Synthase