Terapevticheskii arkhiv · 2006
[Gilbert's syndrome: a clinicogenetic trial].
Сравнительное исследованиеАннотация на английскомСтатьяНазвание и аннотация: Оригинал на русском
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Il'chenko L Iu, Drozdov V N, Shuliat'ev I S, Petrakov A V, Karabanov A V
Аннотация
AIM: To improve diagnosis of Gilbert's syndrome (GS) basing on functional and genetic methods of examination.
MATERIAL AND 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.
CONCLUSION: 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.
MATERIAL AND 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.
CONCLUSION: 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.