Jaundice Congenital Non-hemolytic Type I

The name jaundice comes from the Latin word "illuto", meaning "to turn yellow" and the prefix "bilia" - bile. Thus, jaundice means the “yellowing” (turning yellow) of the body.

Jaundice is a disease that causes yellowing of the skin, mucous membranes and whites of the eyes. The most common cause of jaundice is the presence of excess bilirubin, a component of bile that is produced in the liver and then excreted into the intestines for removal from the body. However, there are various causes of this disease, such as genetic factors, infections, pregnancy or metabolic disorders.

1. Definition _Jaundice_ - acute and chronic damage to liver tissue, manifested by yellowing of the skin and sclera due to a disorder of pigment metabolism (increased concentration of water-soluble bilirubin in the blood serum). There are jaundice caused by diseases of the circulatory system, gastrointestinal tract (GIT) and biliary tract, as well as parenchymal and hemolytic jaundice.

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Congenital nonhemolytic jaundice type I, also known as nonhemolytic hyperbilirubinemia with kernicterus or Crigler-Nahar syndrome, is a rare genetic disorder associated with abnormal bilirubin metabolism in the body. This condition causes elevated levels of bilirubin in the blood, leading to the characteristic yellowing of the skin and mucous membranes.

The manifestation of congenital non-hemolytic jaundice type I is caused by a disruption of the enzyme urodiling glyconate glucuronyl transferase (UGT1A1). This enzyme is responsible for the conjugation of bilirubin, allowing it to be excreted from the body. In patients with type I jaundice, this process is disrupted, leading to the accumulation of unconjugated bilirubin in the blood.

Symptoms of congenital non-hemolytic jaundice type I usually appear immediately after birth or in the first days of life. Newborns may have deep yellow skin and eye color, as well as light-colored stool and dark urine. In some cases, digestive problems such as vomiting or lack of appetite may occur. Some children may also have an enlarged liver or spleen.

The diagnosis of congenital nonhemolytic jaundice type I is usually made based on clinical symptoms and laboratory results, including measurement of bilirubin levels in the blood. Genetic tests to identify mutations in the UGT1A1 gene may also be used to make a differential diagnosis.

Treatment of congenital non-hemolytic jaundice type I is aimed at reducing the level of bilirubin in the blood and eliminating symptoms. Typically, phototherapy methods are used, in which the newborn is irradiated with a special blue light, which helps convert unconjugated bilirubin into conjugated bilirubin, which is then excreted from the body. In some cases, blood exchange procedures or medications may be required.

Congenital nonhemolytic jaundice type I is a chronic condition and patients may require long-term medical monitoring and supportive care. However, modern diagnostic and treatment methods can improve the prognosis and quality of life in children with this disorder.

In conclusion, congenital nonhemolytic jaundice type I, or hyperbilirubinemia nonhemolytic with kernicterus, is a rare genetic disorder characterized by elevated levels of bilirubin in the blood. This condition requires careful diagnosis and management, including phototherapy and other medical interventions. Although it is a chronic disease, modern treatments and medical monitoring help patients manage symptoms and improve their prognosis and quality of life.

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