Rotor syndrome: Difference between revisions

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{{Infobox medical condition (new)
{{Infobox medical condition
| name           = Rotor syndrome
| name = Rotor syndrome
| synonyms        = Rotor type hyperbilirubinemia<ref name=omim>{{OMIM|237450}}</ref>
| image =  
| image          = Bilirubin.svg
| caption =  
| caption        = [[Bilirubin]]
| field = [[Hepatology]]
| pronounce      =
| symptoms = [[Jaundice]], [[hyperbilirubinemia]]
| field          =
| onset = [[Infancy]] or [[childhood]]
| symptoms       =
| duration = Lifelong
| complications  =  
| causes = [[Genetic mutation]]
| onset           =  
| diagnosis = [[Blood test]], [[liver function test]]
| duration       =
| treatment = [[Symptomatic treatment]]
| types          =  
| frequency = Rare
| causes         =
| risks          =  
| diagnosis       =  
| differential    =  
| prevention      =
| treatment       =
| medication      =
| prognosis      =
| frequency       =
| deaths          =  
}}
}}
'''Rotor syndrome''' is a rare, relatively benign, [[autosome|autosomal]] [[dominance (genetics)|recessive]]<ref name=rsar>{{Cite journal| doi = 10.1016/0002-9343(76)90426-5|vauthors=Wolkoff AW, Wolpert E, Pascasio FN, Arias IM | title = Rotor's syndrome. A distinct inheritable pathophysiologic entity| journal = The American Journal of Medicine| volume = 60| issue = 2| pages = 173–179| date = February 1976| pmid = 766621}}</ref> [[bilirubin]] disorder. It is a distinct yet similar disorder to [[Dubin–Johnson syndrome]]<ref name=omim/> – both diseases cause an increase in conjugated bilirubin.


==Signs and symptoms==
'''Rotor syndrome''' is a rare [[autosomal recessive]] [[genetic disorder]] characterized by chronic [[jaundice]] due to [[conjugated hyperbilirubinemia]]. It is similar to [[Dubin-Johnson syndrome]] but lacks the [[liver]] pigmentation seen in that condition.
Rotor syndrome has many features in common with [[Dubin–Johnson syndrome]], an exception being that the liver cells are not pigmented. The main symptom is a non-itching [[jaundice]]. There is a rise in [[bilirubin]] in the patient's [[Blood plasma|serum]], mainly of the conjugated type.


<youtube>
==Etiology==
title={{PAGENAME}}
Rotor syndrome is caused by mutations in the [[SLCO1B1]] and [[SLCO1B3]] genes, which encode for [[organic anion transporting polypeptides]] (OATPs) involved in the hepatic uptake of bilirubin. These mutations lead to impaired hepatic uptake and excretion of conjugated bilirubin, resulting in its accumulation in the blood.
movie_url=http://www.youtube.com/v/sHR9HlDJzWk
&rel=1
embed_source_url=http://www.youtube.com/v/sHR9HlDJzWk
&rel=1
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It can be differentiated from Dubin–Johnson syndrome in the following ways:<ref name="WyllieHyams">{{cite book|author1=Robert Wyllie|author2=Jeffrey S. Hyams|title=Pediatric Gastrointestinal and Liver Disease E-Book|url=https://books.google.com/books?id=U4jqbShpfioC&pg=PA186|date=2010-11-29|publisher=Elsevier Health Sciences|isbn=978-1-4377-3566-6|pages=186–}}</ref>
==Pathophysiology==
In Rotor syndrome, the defective function of OATPs results in the inability of the liver to efficiently uptake conjugated bilirubin from the blood. Unlike [[Dubin-Johnson syndrome]], where there is a defect in the excretion of bilirubin into the bile, Rotor syndrome primarily involves impaired uptake. This leads to an increase in serum levels of conjugated bilirubin, causing [[jaundice]].


{| class="wikitable"
==Clinical Presentation==
| || '''Rotor syndrome''' || '''Dubin–Johnson syndrome'''
Patients with Rotor syndrome typically present with mild, chronic jaundice that may be noticed in infancy or childhood. The jaundice is usually not associated with other symptoms, and patients generally have normal liver function tests except for elevated levels of conjugated bilirubin.
|-
| appearance of [[liver]] || normal histology and appearance  || liver has black pigmentation
|-
| [[gallbladder]] visualization ||gallbladder can be visualized by oral cholecystogram  || gallbladder cannot be visualized
|-
| 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)
|}


It has been suggested that Rotor syndrome may exacerbate toxic side effects of the medication [[irinotecan]].<ref>Iusuf, D., Ludwig, M., Elbatsh, A., van Esch, A., van de Steeg, E., & Wagenaar, E. et al. (2013). OATP1A/1B Transporters Affect Irinotecan and SN-38 Pharmacokinetics and Carboxylesterase Expression in Knockout and Humanized Transgenic Mice. Molecular Cancer Therapeutics, 13(2), 492-503. https://dx.doi.org/10.1158/1535-7163.mct-13-0541\</ref>
==Diagnosis==
The diagnosis of Rotor syndrome is primarily based on clinical presentation and laboratory findings. Key diagnostic features include:
* Elevated serum levels of conjugated bilirubin.
* Normal liver function tests except for hyperbilirubinemia.
* Absence of liver pigmentation on [[liver biopsy]], which helps differentiate it from Dubin-Johnson syndrome.


==Genetics==
Genetic testing can confirm mutations in the SLCO1B1 and SLCO1B3 genes, supporting the diagnosis.
[[Image:Autosomal recessive - en.svg|thumb|right|Rotor syndrome has an [[autosomal recessive]] pattern of inheritance.]]
Rotor syndrome is inherited in an autosomal recessive manner.<ref name=rsar/> The ''[[SLCO1B1]]'' and ''[[SLCO1B3]]'' genes are involved in Rotor syndrome.<ref name="pmid22232210">{{cite journal |vauthors = van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH |title = Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver |journal = The Journal of Clinical Investigation |volume = 122 |issue = 2 |pages = 519–28 |year = 2012 |pmid = 22232210 |pmc = 3266790 |doi = 10.1172/JCI59526}}</ref> Mutations in both genes are required for the condition to occur. The ''SLCO1B1'' and ''SLCO1B3'' genes provide instructions for making similar proteins, called [[Organic anion-transporting polypeptide|organic anion transporting polypeptide]] 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body. The ''SLCO1B1'' and ''SLCO1B3'' gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.<ref name="NIH">{{cite web |url=http://ghr.nlm.nih.gov/condition/rotor-syndrome |title=Rotor Syndrome |author=<!--Not stated--> |date= |website=NIH |publisher=U.S. Department of Health & Human Services |access-date= }}</ref>


==Diagnosis==
==Management==
Increased conjugated hyperbilirubinemia is the hallmark for diagnosing Rotor syndrome. There is no distinct black pigmentation of the liver as seen in a similar, Dubin-Johnson Syndrome. Genes, ''SLCO1B1'' and ''SLCO1B3'' that result in complete functional deficiencies of both protein products (OATP1B1 and OATP1B3, respectively), are also present.
There is no specific treatment for Rotor syndrome, as it is a benign condition. Management focuses on monitoring and addressing any symptoms that may arise. Patients are advised to avoid factors that may exacerbate jaundice, such as certain medications or [[dehydration]].
 
==Prognosis==
The prognosis for individuals with Rotor syndrome is excellent. The condition is benign and does not lead to liver damage or other complications. Patients can lead normal lives with regular monitoring.


==Treatment==
==Epidemiology==
To treat the jaundice, [[phenobarbital]] is normally used.
Rotor syndrome is a rare condition, with only a few hundred cases reported worldwide. It affects both males and females equally and is found in various ethnic groups.


==Eponym==
==History==
Rotor syndrome is named after the [[Filipino people|Filipino]] [[internist]] [[Arturo Belleza Rotor]] (1907–1988).<ref>{{WhoNamedIt|synd|2296}}</ref>
Rotor syndrome was first described in 1948 by B. Rotor and colleagues, who identified the condition as a distinct form of familial conjugated hyperbilirubinemia.


==See also==
==See also==
* [[Jaundice]]
* [[Dubin-Johnson syndrome]]
* [[Bilirubin metabolism]]
* [[Gilbert's syndrome]]
* [[Gilbert's syndrome]]
* [[Crigler–Najjar syndrome]]
* [[Crigler-Najjar syndrome]]


==References==
==References==
{{reflist}}
{{Reflist}}


== External links ==
==External links==
{{Medical resources
* [https://ghr.nlm.nih.gov/condition/rotor-syndrome Genetic and Rare Diseases Information Center]
|  DiseasesDB    = 11671
|  ICD10          = {{ICD10|E|80|6|e|70}}
|  ICD9          = {{ICD9|277.4}}
|  ICDO          =
|  OMIM          = 237450
|  MedlinePlus    =
|  eMedicineSubj  =
|  eMedicineTopic =
|  MeshID        = D006933
|  Orphanet      = 3111
}}
*{{eMedicine|med|1065|Hyperbilirubinemia, Conjugated}}
*{{RareDiseases|218|Rotor syndrome}}
* Mentioned in {{MedlinePlusEncyclopedia|003243|Jaundice – yellow skin}}


{{Heme metabolism disorders}}
{{Medical conditions related to liver}}
{{adapted}}
[[Category:Genetic disorders]]
{{DEFAULTSORT:Rotor Syndrome}}
[[Category:Hepatology]]
[[Category:Syndromes]]
[[Category:Heme metabolism disorders]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
[[Category:Autosomal recessive disorders]]
[[Category:Hepatology]]

Revision as of 02:12, 2 January 2025

Rotor syndrome
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Jaundice, hyperbilirubinemia
Complications N/A
Onset Infancy or childhood
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks N/A
Diagnosis Blood test, liver function test
Differential diagnosis N/A
Prevention N/A
Treatment Symptomatic treatment
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


Rotor syndrome is a rare autosomal recessive genetic disorder characterized by chronic jaundice due to conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome but lacks the liver pigmentation seen in that condition.

Etiology

Rotor syndrome is caused by mutations in the SLCO1B1 and SLCO1B3 genes, which encode for organic anion transporting polypeptides (OATPs) involved in the hepatic uptake of bilirubin. These mutations lead to impaired hepatic uptake and excretion of conjugated bilirubin, resulting in its accumulation in the blood.

Pathophysiology

In Rotor syndrome, the defective function of OATPs results in the inability of the liver to efficiently uptake conjugated bilirubin from the blood. Unlike Dubin-Johnson syndrome, where there is a defect in the excretion of bilirubin into the bile, Rotor syndrome primarily involves impaired uptake. This leads to an increase in serum levels of conjugated bilirubin, causing jaundice.

Clinical Presentation

Patients with Rotor syndrome typically present with mild, chronic jaundice that may be noticed in infancy or childhood. The jaundice is usually not associated with other symptoms, and patients generally have normal liver function tests except for elevated levels of conjugated bilirubin.

Diagnosis

The diagnosis of Rotor syndrome is primarily based on clinical presentation and laboratory findings. Key diagnostic features include:

  • Elevated serum levels of conjugated bilirubin.
  • Normal liver function tests except for hyperbilirubinemia.
  • Absence of liver pigmentation on liver biopsy, which helps differentiate it from Dubin-Johnson syndrome.

Genetic testing can confirm mutations in the SLCO1B1 and SLCO1B3 genes, supporting the diagnosis.

Management

There is no specific treatment for Rotor syndrome, as it is a benign condition. Management focuses on monitoring and addressing any symptoms that may arise. Patients are advised to avoid factors that may exacerbate jaundice, such as certain medications or dehydration.

Prognosis

The prognosis for individuals with Rotor syndrome is excellent. The condition is benign and does not lead to liver damage or other complications. Patients can lead normal lives with regular monitoring.

Epidemiology

Rotor syndrome is a rare condition, with only a few hundred cases reported worldwide. It affects both males and females equally and is found in various ethnic groups.

History

Rotor syndrome was first described in 1948 by B. Rotor and colleagues, who identified the condition as a distinct form of familial conjugated hyperbilirubinemia.

See also

References

<references group="" responsive="1"></references>


External links

Template:Medical conditions related to liver

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