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Rotor syndrome

  Rotor syndrome (RS) is a type II hereditary conjugated hyperbilirubinemia, first reported by Rotor in 1948. It was initially considered to be a subtype of DJS, but confirmed to be an independent disease through organic anion clearance tests and analysis of coproporphyrin isomers in urine, which is less common than DJS and also an autosomal recessive inheritance. Rotor syndrome is a rare childhood or adolescent jaundice.

  The onset and clinical symptoms of RS are very similar to those of DJS, with a good prognosis and no need for treatment. However, in laboratory tests, the following four aspects are obviously different from DJS:

  1. The BSP retention test is significantly elevated at 45 minutes, often reaching 20%-40%, and there is no further rise curve at 90-120 minutes.

  2. The liver does not appear dark brown, and there are no specific pigment granules deposited in liver cells.

  3. The total excretion of coproporphyrin in 24-hour urine is significantly increased, but the distribution of coproporphyrin isotypes is as normal as in healthy people.

  4. Oral gallbladder imaging shows good contrast.

 

Table of Contents

1. What are the causes of Rotor syndrome
2. What complications can Rotor syndrome easily lead to
3. What are the typical symptoms of Rotor syndrome
4. How to prevent Rotor syndrome
5. What laboratory tests need to be done for Rotor syndrome
6. Diet recommendations and禁忌 for Rotor syndrome patients
7. The conventional method of Western medicine for treating Rotor syndrome

1. What are the causes of Rotor syndrome

  The etiology of Rotor syndrome is complex and comprehensive, and the specific causes are as follows.

  1. Due to the congenital defect in the liver cells' uptake of free bilirubin and excretion of conjugated bilirubin, the level of conjugated bilirubin in the blood is increased, and the indocyanine green (ICG) excretion test shows a decrease.

  2. Gallbladder imaging often shows good contrast, while a few do not show contrast. Liver biopsy is normal, and there are no pigment granules in liver cells.

  What is conjugated bilirubin? It is the result of normal red blood cell metabolism. The lifespan of red blood cells in normal people is about 100-120 days, and 1% of the red blood cells in the human body die and age every day. These dead red blood cells are cleared and decomposed by phagocytes, forming biliverdin, which is then quickly reduced to unconjugated bilirubin and then converted to conjugated bilirubin. Liver cells transport and excrete it into the bile canals, becoming one of the main components of bile.

 

2. What complications can Rotor syndrome easily lead to

  Rotor syndrome is an autosomal recessive genetic disease. Although parents may carry the recessive disease-causing gene, they appear normal and healthy on the surface. However, every time a mother becomes pregnant, there is a 25% chance that the fetus will inherit the disease-causing gene from both parents, resulting in a genetic disease. There is a 50% chance that the fetus will carry the recessive disease-causing gene like the parents. There is only a 25% chance that the fetus will be completely normal.

3. What are the typical symptoms of Rotor syndrome

  Rotor syndrome is almost always seen in patients under the age of 20, with no difference between males and females, mainly manifested as jaundice, with no other symptoms, sometimes easy to fatigue, loss of appetite, abdominal pain. The size of the liver is normal or slightly enlarged.

4. How to prevent Rotor syndrome

  The prognosis of Rotor syndrome is good, liver function is normal, liver enzymes have not increased, and there is no liver enlargement. Unlike many other liver diseases, patients may have an itchy sensation. The lifespan of Rotor patients is also normal, and the condition will not worsen. However, jaundice may occur due to infection, pregnancy, taking oral contraceptives, drinking alcohol (alcohol), and so on. Therefore, it is advisable to avoid the above-mentioned factors.

5. What tests and examinations should be done for Rotor syndrome

  Rotor syndrome isA recessive genetic disease, although parents may carry recessive pathogenic genes, they are all normal and healthy on the surface. In clinical examinations, liver indicators are mainly checked..

6. Dietary taboos for patients with Rotor syndrome

  Patients with Rotor syndrome should have meals at regular intervals and in appropriate amounts, and all three meals should be balanced nutritionally. Eat slowly while chewing, as saliva secretion during chewing also has the function of neutralizing stomach acid. Do not have a preference for food, and do not let children eat and play while eating, or read books and watch TV while eating.

  Prevent overeating and undereating, overeating when encountering favorite foods, and not eating or eating very little when encountering dishes that are not to one's taste, which makes the burden on the gastrointestinal tract fluctuate. Do not emphasize high nutrition unilaterally, and achieve scientific dietary matching, eating more high-protein, low-fat, and easily digestible foods. Do not eat刺激性大的食物 for a long time, and do not overeat cold drinks such as ice cream.

 

7. Conventional methods for treating Rotor syndrome in Western medicine

  There is no specific medicine for Rotor syndrome, and some people may use phenobarbital to promote the transport and excretion of bilirubin. Rotor syndrome will not evolve into liver cancer or liver cirrhosis.

  The prognosis of Rotor syndrome is good, liver function is normal, liver enzymes have not increased, and there is no liver enlargement. Unlike many other liver diseases, patients may have an itchy sensation. The lifespan of Rotor patients is also normal, and the condition will not worsen. However, jaundice may occur due to infection, pregnancy, taking oral contraceptives, drinking alcohol (alcohol), and so on.

 

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