ローター症候群
WordNet
- the rotating armature of a motor or generator (同)rotor coil
- rotating mechanism consisting of an assembly of rotating airfoils; "there are horizontal rotors on a helicopter or compressor rotors in a jet engine"
- the revolving bar of a distributor
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (電動機などの)回転子 / (ヘリコプターなどの)回転翼
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/11/07 05:23:54」(JST)
[Wiki en表示]
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (August 2010) (Learn how and when to remove this template message) |
Rotor syndrome |
Bilirubin
|
Classification and external resources |
Specialty |
endocrinology |
ICD-10 |
E80.6 |
ICD-9-CM |
277.4 |
OMIM |
237450 |
DiseasesDB |
11671 |
MeSH |
D006933 |
[edit on Wikidata]
|
Rotor syndrome, also called Rotor type hyperbilirubinemia,[1] is a rare, relatively benign autosomal recessive[2] bilirubin disorder. It is a distinct, yet similar disorder to Dubin–Johnson syndrome[1] — both diseases cause an increase in conjugated bilirubin.
Contents
- 1 Signs and symptoms
- 2 Genetics
- 3 Eponym
- 4 See also
- 5 References
- 6 External links
Signs and symptoms
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 serum, mainly of the conjugated type.
It can be differentiated from Dubin–Johnson syndrome in the following ways:
|
Rotor syndrome |
Dubin–Johnson syndrome |
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) |
Genetics
Rotor syndrome has an autosomal recessive pattern of inheritance.
Rotor syndrome is inherited in an autosomal recessive manner.[2]
The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. 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 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.[3]
Eponym
Rotor syndrome is named after the Filipino internist, Arturo Belleza Rotor (1907–1988).[4]
See also
- Jaundice
- Bilirubin metabolism
- Gilbert's syndrome
- Crigler–Najjar syndrome
References
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 237450
- ^ a b Wolkoff AW, Wolpert E, Pascasio FN, Arias IM (February 1976). "Rotor's syndrome. A distinct inheritable pathophysiologic entity". The American Journal of Medicine. 60 (2): 173–179. doi:10.1016/0002-9343(76)90426-5. PMID 766621.
- ^ http://ghr.nlm.nih.gov/condition/rotor-syndrome
- ^ synd/2296 at Who Named It?
External links
- Hyperbilirubinemia, Conjugated at eMedicine
- Rotor syndrome at NIH's Office of Rare Diseases
- Mentioned in MedlinePlus Encyclopedia Jaundice – yellow skin
Heme metabolism disorders (E80, 277.1, 277.4)
|
|
Porphyria,
hepatic and erythropoietic
(porphyrin) |
early mitochondrial: |
- ALAD porphyria
- Acute intermittent porphyria
|
|
cytoplasmic: |
- Gunther disease/congenital erythropoietic porphyria
- Porphyria cutanea tarda/Hepatoerythropoietic porphyria
|
|
late mitochondrial: |
- Hereditary coproporphyria
- Harderoporphyria
- Variegate porphyria
- Erythropoietic protoporphyria
|
|
|
Hereditary hyperbilirubinemia
(bilirubin) |
unconjugated: |
- Gilbert's syndrome
- Crigler–Najjar syndrome
- Lucey–Driscoll syndrome
|
|
conjugated: |
- Dubin–Johnson syndrome
- Rotor syndrome
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Management of a patient with colon cancer and rotor syndrome: A case report.
- Arslan D, Avci F, Merdin A, Gunduz S, Coskun HS.Author information Department of Medical Oncology, Akdeniz University Faculty of Medicine, Antalya 07070, Turkey.AbstractRotor Syndrome (RS) is a rare disease that is autosomal recessive and characterized by asymptomatic jaundice, conjugated hyperbilirubinemia and coproporphyria. RS occurs as a result of a complete lack or partial defect of organic anion transporter polypeptides (OATPs) on the basolateral surface of hepatocytes. OATPs facilitate the excretion of bilirubin and organic anions from the liver to the bile. To the best of our knowledge, there is no information in the literature relating to the treatment of a patient with colon cancer and RS. The present study aimed to discuss the systematic chemotherapy that is used and the effects on a 45-year-old patient who had RS with asymptomatic jaundice and was diagnosed with colon adenocarcinoma following surgery. The patient was administered oxaliplatin in combination with capecitabine. The patient's biluribin level increased after one week. Capecitabine treatment was interrupted and the patient was administered oxaliplatin monotherapy. No significant toxicity was observed during that period. At the latest follow-up the patient did not exhibit any progression.
- Oncology letters.Oncol Lett.2014 Mar;7(3):797-798. Epub 2013 Dec 19.
- Rotor Syndrome (RS) is a rare disease that is autosomal recessive and characterized by asymptomatic jaundice, conjugated hyperbilirubinemia and coproporphyria. RS occurs as a result of a complete lack or partial defect of organic anion transporter polypeptides (OATPs) on the basolateral surface of h
- PMID 24520296
- Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
- Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM.Author information Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, Utah, USA.AbstractWe cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Analysis of the α-spectrin gene (SPTA1) in the proband revealed two previously reported low-frequency heterozygous polymorphisms of unknown clinical significance and the α(LELY) allele. In addition, a novel heterozygous mutation was identified in exon 2 of the β-spectrin gene SPTB. No mutations were identified in ANK1 (ankyrin-1), SLC4A1 (band 3), EPB41 (band 4.1), or EPB42 (band 4.2).
- Neonatology.Neonatology.2014;105(1):1-4. doi: 10.1159/000354884. Epub 2013 Oct 31.
- We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnos
- PMID 24193021
- Cardiac Arrythmias: Multimodal Assessment Integrating Body Surface ECG Mapping into Cardiac Imaging.
- Cochet H, Dubois R, Sacher F, Derval N, Sermesant M, Hocini M, Montaudon M, Haïssaguerre M, Laurent F, Jaïs P.Author information From the Departments of Cardiovascular Imaging (H.C., M.M., F.L.) and Cardiac Pacing and Electrophysiology (F.S., N.D., M. Hocini, M. Haïssaguerre, P.J.), Centre Hospitalier Universitaire/Université de Bordeaux, Hopital Cardiologique Haut Lévêque, Avenue de Magellan, 33604 Pessac, France; L'Institut de Rythmologie et de Modélisation Cardiaque-Equipex Multimodal Platform for Specific Imaging in Cardiology, Centre Hospitalier Universitaire/Université de Bordeaux/Institut National de la Santé et de la Recherche Médicale U1045, Pessac, France (H.C., R.D., F.S., N.D., M.H., M.M., M.H., F.L., P.J.); and Institut National de Recherche en Informatique et Automatique Asclepios Research Team-Institut National de Recherche en Informatique et Automatique Sophia Antipolis, Sophia Antipolis, France (M.S.).AbstractPurpose To demonstrate the feasibility of comprehensive assessment of cardiac arrhythmias by combining body surface electrocardiographic (ECG) mapping (BSM) and imaging. Materials and Methods This study was approved by the institutional review board, and all patients gave written informed consent. Twenty-seven patients referred for electrophysiologic procedures in the context of ventricular tachycardia (VT) (n = 9), Wolff-Parkinson-White (WPW) syndrome (n = 2), atrial fibrillation (AF) (n = 13), or scar-related ventricular fibrillation (VF) (n = 3) were examined. Patients underwent BSM and imaging with multidetector computed tomography (CT) (n = 12) and/or delayed enhanced magnetic resonance (MR) imaging (n = 23). BSM was performed by using a 252-electrode vest that enabled the computation of epicardial electrograms from body surface potentials. The epicardial geometry used for BSM was registered to the epicardial geometry segmented from imaging data by using an automatic algorithm. The output was a three-dimensional (3D) cardiac model that integrated cardiac anatomy, myocardial substrate, and epicardial activation. Results Acquisition, segmentation, and registration were feasible in all patients. In VT, this enabled a noninvasive assessment of the arrhythmia mechanism and its location with respect to the myocardial substrate, coronary vessels, and phrenic nerve. In WPW syndrome, this enabled understanding of complex accessory pathways resistant to previous ablation. In AF and VF, this enabled the noninvasive assessment of arrhythmia mechanisms and the analysis of rotor trajectories with respect to the myocardial substrate. In all patients, 3D models were successfully integrated in navigation systems and used to guide mapping and ablation. Conclusion By combining information on anatomy, substrate, and electrical activation, the fusion of BSM and imaging enables comprehensive noninvasive assessment of cardiac arrhythmias, with potential applications for diagnosis, prognosis, and ablation targeting. © RSNA, 2013 Online supplemental material is available for this article.
- Radiology.Radiology.2013 Dec 3:131331. [Epub ahead of print]
- Purpose To demonstrate the feasibility of comprehensive assessment of cardiac arrhythmias by combining body surface electrocardiographic (ECG) mapping (BSM) and imaging. Materials and Methods This study was approved by the institutional review board, and all patients gave written informed consent. T
- PMID 24475841
Japanese Journal
- Activation Pattern of the Polymorphic Ventricular Tachycardia and Ventricular Fibrillation on Body Surface Mapping in Patients With Brugada Syndrome
- Activation Pattern of the Polymorphic Ventricular Tachycardia and Ventricular Fibrillation on Body Surface Mapping in Patients With Brugada Syndrome
- 357 自己同期現象を利用した振動ランマの開発 : 試作機の性能評価(領域1 解析・設計の高度化と新展開)
Related Links
- Rotor syndrome, also called Rotor type hyperbilirubinemia, is a rare, relatively benign autosomal recessive bilirubin disorder of unknown origin. It is a distinct disorder, yet similar to Dubin–Johnson syndrome — both diseases cause an ...
Related Pictures
![, Hereditary (Rotor Syndrome](https://1mg.info/0/6/3/2576.jpg)
![Rotor's syndrome](https://1mg.info/0/6/3/2577.jpg)
![Perinatal Infections - Rotor Syndrome (67)](https://1mg.info/0/6/3/2578.jpg)
![, Hereditary (Rotor Syndrome](https://1mg.info/0/6/3/2579.jpg)
![benign rotor s syndrome is similar but](https://1mg.info/0/6/3/2580.jpg)
★リンクテーブル★
[★]
- 英
- Rotor syndrome RS
- 同
- (国試)Rotor症候群、ローター型高ビリルビン血症 Rotor hyperbilirubinemia、Rotor型過ビリルビン血症
- 関
- 黄疸、高直接ビリルビン血症
概念
- 軽度の直接ビリルビン血症を呈する疾患で体質黄疸の一つである。
検査
- HIM.1913 参考1
参考
- 1. [charged] Inherited disorders associated with conjugated hyperbilirubinemia - uptodate [1]
体質性黄疸 (IMD.875)
[★]
[★]
遺伝性高ビリルビン血症
- 関
- Rotor syndrome
[★]
- 関
- magnet bar、rotator
[★]