Добавлю к сообщению д-ра Вадима.
The most important aspect of the diagnosis of Gilbert syndrome is recognizing the disorder without subjecting patients to invasive and unnecessary testing. The diagnosis has traditionally been established based on mild unconjugated hyperbilirubinemia (possibly provoked by factors such as dehydration, fasting, intercurrent disease, menstruation, or overexertion) in patients with no apparent liver disease or hemolysis.
A presumptive diagnosis can be made in patients with the following features [53-56]:
●Unconjugated hyperbilirubinemia on repeated testing
●A normal complete blood count, blood smear, and reticulocyte count
●Normal plasma aminotransferases and alkaline phosphatase concentrations
The diagnosis is definitive in patients who continue to have normal laboratory studies (other than the elevation in plasma bilirubin) during the next 12 to 18 months.
The diagnosis is supported by observing a rise in the plasma bilirubin concentration following a low lipid, 400 kcal diet. Another provocative test is to administer intravenous nicotinic acid, which causes hyperbilirubinemia within three hours (possibly because of an increase in bilirubin formation in the spleen and enhanced uptake by the liver) [26,57-59]. However, these provocative tests are seldom necessary in clinical practice.
Genetic testing can confirm the diagnosis in settings where there is diagnostic confusion [9]. It is currently available at some clinical laboratories.
Основная мысль здесь - диагноз ставится по результатам обычных лабораторных исследований: ОАК с ретикулоцитами, биохимический анализ крови, мазок крови, и нет необходимости подвергать пациента, тем более, ребенка инвазивным и ненужным процедурам.
Помните, при с-ме Жильбера не рекомендованы некоторые лекарства.
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