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Hereditary disorders of bilirubin metabolism

Hereditary hyperbilirubinemia is a group of conditions caused by congenital disorders of bilirubin metabolism (a product of the natural breakdown of hemoglobin) and characterized by jaundice of varying intensity. 

GILBERT'S SYNDROME (SJ) - the most mild form of hereditary hyperbilirubinemia. It first appears at a young age, and is much more common in men.

The basis of the pathogenesis of CS is a violation of the capture and subsequent transport of bilirubin by liver cells due to the innate inferiority of the enzyme systems responsible for these processes. A special feature of CS is an increase in unconjugated (unbound) bilirubin in the blood. 

The appearance or increase of jaundice (coloration of the skin and sclera in a jaundiced hue) in FH is provoked by intense physical or psychoemotional stress, starvation, past illnesses, and taking certain medications. 

LV has a favorable course and is not associated with an increased risk of cirrhosis and liver cancer. 

KRIGLER-NAYYAR SYNDROME is a malignant congenital unconjugated hyperbilirubinemia. The frequency of detection does not depend on gender. The pathogenetic mechanism is similar to FW. It can lead to severe damage to the nervous system and to the death of patients at an early age. 

DUBIN-JOHNSON SYNDROME is a rare hereditary conjugated hyperbilirubinemia characterized by a violation of the excretion of bound bilirubin from the liver cells to the bile capillaries due to a congenital defect in the transport system of the hepatocyte tubules. With the same frequency occurs in men and women. In most cases, it manifests itself at a young age. It usually has a favorable course and does not affect the life expectancy of patients.

ROTOR SYNDROME is a benign familial conjugated hyperbilirubinemia caused by a violation of the uptake of bilirubin by hepatocytes and its subsequent excretion (as in Dabin-Johnson syndrome). It usually manifests itself in childhood with episodes of mild jaundice. The forecast is favorable.

Timely diagnosis of hereditary hyperbilirubinemia (including genetic testing), pathogenetic therapy, correction of work, rest and nutrition, which are carried out by specialists of the Moscow Clinical Scientific and Practical Center named after A. S. Loginov, contribute to improving the quality of life of the patient.

Do not delay your visit to the specialists of our Center. This will help to diagnose the disease in a timely manner and choose the right treatment tactics. Doctors of the Department of Chronic Liver Diseases of the State Medical Institution of the Moscow State Medical Center named after A. S. Loginov DZM are always ready to help you. 
 

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