Rotor Syndrome
| Classification according to ICD-10 | |
|---|---|
| E80 | Disorders of the porphyrin and bilirubin metabolism |
| E80.6 | Other disorders of bilirubin metabolism |
| ICD-10 online (WHO version 2019) | |
The Rotor syndrome - rarely rotor Manahan-Florentin syndrome - is a very rare, benign, autosomal - recessive hereditary disease that affects both sexes and clinically the Dubin-Johnson syndrome is similar.
Although it occurs mainly in the Philippines , the scientific interest in both disorders is justified by the fact that their investigation provides insight into the transport processes in the liver.
The cause of the problem is the transport of conjugated bilirubin from the liver cell into the bile ducts through the MRP-2 channel.
Symptoms
Patients with Rotor syndrome usually have no symptoms other than jaundice ( icterus ) . The occasional occurrence of abdominal pain and fever is mentioned, although the findings are so unspecific that “constitutional symptoms” are also vaguely referred to.
Laboratory findings
Elevated direct bilirubin (3–10 mg / dl) without signs of haemolysis can be detected in the blood . There is no hepatopathy with cell necrosis, so the levels of transaminases are always normal, as is the activity of alkaline phosphatase .
history
The Filipino doctors A. Florentin, L. Manahan and Arturo Belleza Rotor described the disorder for the first time. Initially equated with the Dubin-Johnson syndrome, Wolkoff et al. by examining the excretion of coproporphyrin in the urine, determine that there must be two different clinical pictures.
literature
- Arturo B. Rotor, Lourdes Manahan, Angel Florentin: Familial non-hemolytic jaundice with direct van den Bergh reaction. In: Acta medica Philippina. 1948, No. 5, pp. 37-49, ISSN 0001-6071 .
Individual evidence
- ↑ Klaus Peter Maier: Hepatitis-Hepatitissequences. 5th edition. Thieme, Stuttgart 2000, ISBN 3-13-585105-2 .
- ↑ AW Wolkoff, E. Wolpert, FN Pascasio, IM Arias: Rotor's syndrome: a distinct inheritable pathophysiologic entity . In: Am. J. Med. , 1976, 60, pp. 173-179, PMID 766621 .
