[Clinical manifestations of porphyrin metabolism disorders].
OBJECTIVE
To characterize patients with various nosological unities [symbol: see text] of porphyria in accordance with their age, clinical symptoms, provoking factors, therapy and outcome.


METHODS
Patients with acute intermittent porphyria (43), hereditary coproporphyria (8), variegate porphyria (3), porphyria cutanea tarda (7), hepatoerythropoietic porphyria (1), and hereditary erythropoietic porphyria (2) were studied. One patient was suspected of porphyria caused by deficiency of delta-aminolevulenic acid dehydrogenase.


RESULTS
The patients were from the CIS. The overwhelming majority of them were young and middle-aged subjects. Rapid development of the disease and severe neurological symptoms were predominantly observed in patients with acute forms of porphyria.


CONCLUSIONS
Early diagnosis of porphyrin metabolism disorders makes it possible to decrease abruptly the number of cases leading to severe complications, disability, and fatal outcome. The use of inexpensive methods of screening of porphyrin metabolism disorders provides a promising approach to solving this problem. These methods should be used in municipal hospitals. In addition, asymptomatic carriers of defective gene should be revealed at the preclinical stage using various methods of molecular genetic assay.
Pustovoĭt
Ia S
IaS
Karpova
I V
IV
Pivnik
A V
AV
Surin
V L
VL
Luk'ianenko
A V
AV
Luchinina
Iu A
IuA
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000627:therapeutic use; D002908:Chronic Disease; D005260:Female; D006418:Heme / Q000627:therapeutic use; D006801:Humans; D007290:Inosine Diphosphate / Q000627:therapeutic use; D008875:Middle Aged; D015282:Octreotide / Q000627:therapeutic use; D010956:Plasmapheresis; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D017092:Porphyria, Erythropoietic / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D011164:Porphyrias / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D011166:Porphyrins / Q000378:metabolism*
D011166:Porphyrins; D006418:Heme; D007290:Inosine Diphosphate; D001120:Arginine; C048849:heme arginate; D015282:Octreotide