Rotor syndrome, also called Rotor type hyperbilirubinemia, is a rare, relatively benign autosomal

Autosome

An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

 recessive bilirubin

Bilirubin

Bilirubin is the yellow breakdown product of normal heme catabolism. Heme is found in hemoglobin, a principal component of red blood cells. Bilirubin is excreted in bile and urine, and elevated levels may indicate certain diseases...

 disorder of unknown origin. It is a distinct disorder, yet similar to Dubin-Johnson syndrome

Dubin-Johnson syndrome

Dubin–Johnson syndrome is an autosomal recessive disorder that causes an increase of conjugated bilirubin in the serum without elevation of liver enzymes . This condition is associated with a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile, and is similar to...

 — both diseases cause an increase in conjugated bilirubin.

Characteristics

Rotor syndrome has many things in common with Dubin-Johnson syndrome, an exception being that the liver cells are not pigmented. The main symptom is a non-itching jaundice

Jaundice

Jaundice is a yellowish pigmentation of the skin, the conjunctival membranes over the sclerae , and other mucous membranes caused by hyperbilirubinemia . This hyperbilirubinemia subsequently causes increased levels of bilirubin in the extracellular fluid...

. There is a rise in bilirubin

Bilirubin

Bilirubin is the yellow breakdown product of normal heme catabolism. Heme is found in hemoglobin, a principal component of red blood cells. Bilirubin is excreted in bile and urine, and elevated levels may indicate certain diseases...

 in the patient's serum

Blood plasma

Blood plasma is the straw-colored liquid component of blood in which the blood cells in whole blood are normally suspended. It makes up about 55% of the total blood volume. It is the intravascular fluid part of extracellular fluid...

, mainly of the conjugated type.

It can be differentiated from Dubin-Johnson syndrome in the following ways:

Rotor syndrome

DJS >-

appearance of liver Liver The liver is a vital organ present in vertebrates and some other animals. It has a wide range of functions, including detoxification, protein synthesis, and production of biochemicals necessary for digestion...

normal histology and appearance

>- | gallbladder Gallbladder In vertebrates the gallbladder is a small organ that aids mainly in fat digestion and concentrates bile produced by the liver. In humans the loss of the gallbladder is usually easily tolerated....  visualization

gallbladder can be visualized by oral cholecystogram

>- | total urine coproporphyrin content

high with <70% being isomer 1

normal with >80% being isomer 1 (normal urine contains more of isomer 3 than isomer 1)

Genetics

Rotor syndrome is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is on an autosome

Autosome

An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

, and two copies of the defective gene (one inherited from each parent) are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry

Genetic carrier

A genetic carrier , is a person or other organism that has inherited a genetic trait or mutation, but who does not display that trait or show symptoms of the disease. They are, however, able to pass the gene onto their offspring, who may then express the gene...

 one copy of the defective gene but usually do not experience any signs or symptoms of the disorder.

Eponym

Rotor syndrome is named after the Filipino

Filipino people

The Filipino people or Filipinos are an Austronesian ethnic group native to the islands of the Philippines. There are about 92 million Filipinos in the Philippines, and about 11 million living outside the Philippines ....

 internist

Internal medicine

Internal medicine is the medical specialty dealing with the prevention, diagnosis, and treatment of adult diseases. Physicians specializing in internal medicine are called internists. They are especially skilled in the management of patients who have undifferentiated or multi-system disease processes...

, Arturo Belleza Rotor

Arturo Belleza Rotor

Arturo B. Rotor was a Filipino medical doctor, civil servant, musician, and writer.-Medical career:Rotor was born in the Philippines and attended the University of the Philippines. He graduated simultaneously from the Conservatory of Music and the College of Medicine...

 (1907–1988).

See also

• Jaundice
  Jaundice
  Jaundice is a yellowish pigmentation of the skin, the conjunctival membranes over the sclerae , and other mucous membranes caused by hyperbilirubinemia . This hyperbilirubinemia subsequently causes increased levels of bilirubin in the extracellular fluid...
  
  
• Bilirubin metabolism
• Dubin-Johnson syndrome
  Dubin-Johnson syndrome
  Dubin–Johnson syndrome is an autosomal recessive disorder that causes an increase of conjugated bilirubin in the serum without elevation of liver enzymes . This condition is associated with a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile, and is similar to...
  
  
• Gilbert syndrome
• Crigler-Najjar syndrome
  Crigler-Najjar syndrome
  Crigler-Najjar Syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of blood. The disorder results in an inherited form of non-hemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in...
  
  

External links

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