Genetic diseases

Gilbert's syndrome

Gilbert's syndrome

Gilbert's syndrome (Gilbert's disease, hereditary pigmentary hepatotoxicity, hyperbilirubinemia Gilbert, benign familial non-hemolytic hyperbilirubinemia, fermentopaticheskaya hyperbilirubinemia) - congenital disease, which is caused by a mutation of the gene encoding the enzyme uridine diphosphate.

Gilbert syndrome or disease is a congenital disease is inherited in an autosomal dominant manner.According to statistics from about two - five percent of otherwise healthy men aged 20 to 30 years, found the disease (men are affected four times more often than women).Start of Gilbert's syndrome in the majority of cases occur in adolescence and continues throughout life.

Gilbert's syndrome is characterized by the following factors:

- Partial failure glyukuroniltransferazy (activity about thirty percent of normal)

- Moderate increase of bilirubin in the blood

- Reduction of elevated bilirubin under the influence of phenobarbital

- Absence of other morphological and functi

onal changes in the liver

- autosomal - dominant inheritance


The most characteristic symptoms of Gilbert's syndrome are considered:

- discomfort in the right upper quadrant

- Enough fatigue

- subikterichnost and ikterichnost sclera (only a few patients have jaundicedcoloration of the skin)

- In some cases, an increase in liver size

factors causing symptoms of this disease may be:

- Taking certain medicines

- Reinforced exercise

- Various operations

- Alcohol

- deviation from the diet

- Colds

In half of reported cases of illness Zhilbara, patients there is a lack of appetite, nausea, belching, bloating, stool disorders.Occasionally there are unpleasant sensations in the liver.


Indicators of total bilirubin in the range Gilbert's syndrome at level of 21 to 51 mmol / l, and under the influence of diseases or physical stress can increase to 85-140 mmol / l.

Special diagnostic tests at Gilbert's syndrome

Trial starvation

After twenty-four hour fasting or after sorokavosmichasovoy low-calorie diet (less than 400 kcal per day), the concentration of bilirubin in the blood serum is increased by 50 - 100%.Bilirubin is determined on an empty stomach in the morning the day of the test, and then two days later.

sample with phenobarbital

Phenobarbital reduces the bilirubin level, by stimulating the activity of the enzyme glyukuroniltrasferazu.

There are also other types of samples: the sample and the sample with bromsulfaleinom with nicotinic acid.

Additional diagnostic procedures include: computer, or ultrasound imaging of liver puncture biopsy and determination of liver enzymes in the blood serum


Special Treatment Gilbert syndrome usually is not carried out, since it is considered not a disease, and the individual characteristics of the organism.

During an exacerbation appointed vitamin, reception Cholagogue and light diet №5.But even if this is not done - and so jaundice symptoms disappear on their own.

main importance is the constant adherence to diet, work and rest.It is desirable to eliminate the use of alcohol and fatty foods as possible to avoid physical overload.

An increase in bilirubin appointed reception sorbent "Sorbovit-To" cure, and then reduce it must go on prophylactic


forecast at Gilbert's syndrome is considered quite favorable, since it is considered one of the variants of the rules and canIt does not affect life span.People with this syndrome are basically healthy and therefore do not need special treatment.

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