[Gilbert's syndrome: a clinicogenetic trial].
OBJECTIVE
To improve diagnosis of Gilbert's syndrome (GS) basing on functional and genetic methods of examination.


METHODS
GS was diagnosed in 88 patients aged 15-72 years using clinical and genetic tests.


RESULTS
Genotyping has detected changes in promotor part of the gene coding uridindiphosphateglucuroniltransferase. In homozygous carriers GS was characterized by a higher baseline level of bilirubin, distinct response to functional tests, frequent combination with essential tremor. In heterozygous patients GS often ran latently.


CONCLUSIONS
Four variants of GS course were established: dispepsic, asthenovegetative, jaundice, latent. Low-caloric diet followed by fenobarbital raised sensitivity and specificity of the test. A clinical classification of GS is proposed. The detected disorders of antipirin pharmacokinetics allow prognosis of the risk of unwanted reactions to the drugs metabolized by monooxigenases of the liver.
Il'chenko
L Iu
LIu
Drozdov
V N
VN
Shuliat'ev
I S
IS
Petrakov
A V
AV
Karabanov
A V
AV
D000293:Adolescent; D000328:Adult; D000368:Aged; D001663:Bilirubin / Q000097:blood*; D004247:DNA / Q000235:genetics; D018450:Disease Progression; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D005878:Gilbert Disease / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D014453:Glucuronosyltransferase / Q000097:blood / Q000235:genetics; D006801:Humans; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011379:Prognosis; D013577:Syndrome; D000099148:UGT1A1 Enzyme
D001663:Bilirubin; D004247:DNA; D005819:Genetic Markers; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme