Alagille syndrome: Difference between revisions

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   MeshID        = D016738 |
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{{Alagille syndrome}}
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''
'''For patient information click [[{{PAGENAME}} (patient information)|here]]'''


{{CMG}}
{{CMG}}; '''Associate Editor-In-Chief:'''[[Sandeep Basnet| Sandeep Basnet, MBBS]], [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]]


{{Editor Help}}
{{SK}} Alagille's syndrome; Alagille-Watson syndrome; arteriohepatic dysplasia (AHD); cardiovertebral syndrome; cholestasis with peripheral pulmonary stenosis; hepatic ductular hypoplasia; hepatofacioneurocardiovertebral syndrome; paucity of interlobular bile ducts; Watson-Miller syndrome


==Overview==
==[[Alagille syndrome overview|Overview]]==
'''Alagille syndrome''' is a [[genetic disorder]] that affects the [[liver]], [[heart]], and other systems of the body. Problems associated with the disorder generally become evident in infancy or early childhood.  The disorder is  inherited in an [[autosomal dominant]] pattern, and the estimated prevalence of Alagille syndrome is 1 in every 70,000 live births.


==Presentation==
==[[Alagille syndrome historical perspective|Historical Perspective]]==
The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed to severe heart and/or liver disease requiring [[transplantation]].


Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the [[skin]] and the whites of the eyes ([[jaundice]]), itching, and deposits of [[cholesterol]] in the skin ([[xanthomas]]). A liver [[biopsy]] may indicate too few [[bile duct]]s (bile duct paucity). Other signs of Alagille syndrome include congenital heart problems, particularly [[Tetralogy of Fallot]], and an unusual butterfly shape of the bones of the spinal column that can be seen in an [[x-ray]]. Many people with Alagille syndrome have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. The [[kidney]]s and [[central nervous system]] may also be affected.
==[[Alagille syndrome pathophysiology|Pathophysiology]]==
==[[Alagille syndrome epidemiology and demographics|Epidemiology and Demographics]]==


[[Mutation]]s in the [[JAG1]] [[gene]] cause Alagille syndrome.<ref name="pmid9207787">{{cite journal |author=Oda T, Elkahloun AG, Pike BL, ''et al'' |title=Mutations in the human Jagged1 gene are responsible for Alagille syndrome |journal=Nat. Genet. |volume=16 |issue=3 |pages=235–42 |year=1997 |pmid=9207787 |doi=10.1038/ng0797-235}}</ref> The JAG1 gene is involved in signaling between adjacent cells during [[Mammalian embryogenesis|embryonic]] development. This signaling influences how the cells are used to build body structures in the developing [[embryo]]. Mutations in JAG1 disrupt the signaling pathway, causing errors in development, especially of the heart, bile ducts in the liver, spinal column, and certain facial features.
==[[Alagille syndrome risk factors|Risk Factors]]==


[[NOTCH2]] is also associated with Alagille syndrome.<ref name="pmid17949281">{{cite journal |author=Samejima H, Torii C, Kosaki R, ''et al'' |title=Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography |journal=Genet. Test. |volume=11 |issue=3 |pages=216–27 |year=2007 |pmid=17949281 |doi=10.1089/gte.2006.0519}}</ref>
==[[Alagille syndrome causes|Causes]]==


Narrowed and malformed bile ducts in the liver produce many of the health problems associated with Alagille syndrome. [[Bile]] is produced in the liver and moves through the bile ducts into the [[small intestine]], where it helps to digest fat. In Alagille syndrome, the bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream.
==[[Alagille syndrome differential diagnosis|Differentiating Alagille syndrome from Other Diseases]]==


==Genetics==
==[[Alagille syndrome natural history|Natural History, Complications & Prognosis]]==
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the [[gene]]. These cases occur in people with no history of the disorder in their family.
==Diagnosis==
[[Alagille syndrome diagnostic criteria|Diagnostic Criteria]] | [[Alagille syndrome history and symptoms | History and Symptoms]] | [[Alagille syndrome physical examination | Physical Examination]] | [[Alagille syndrome laboratory findings | Laboratory Findingd]] | [[Alagille syndrome electrocardiogram |Electrocardiogram]] | [[Alagille syndrome x ray|X Ray]] | [[Alagille syndrome CT|CT]] | [[Alagille syndrome MRI|MRI]] | [[Alagille syndrome other imaging findings |Other Imaging Findings]] | [[Alagille syndrome other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
==Treatment==
[[Alagille syndrome medical therapy|Medical Therapy]] | [[Alagille syndrome surgery|Surgery]] | [[Alagille syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Alagille syndrome future or investigational therapies|Future or Investigational Therapies]]


There is no known cure for Alagille's Syndrome. Most of the treatments available are aimed at improving the functioning of the heart, and reducing the effects of impaired liver function.
==Related Chapters==
 
==Medication==
 
Several medications are used to improve bile flow and reduce itching ([[pruritus]]): [[Ursodiol]] (Actigall), [[Hydroxyzine]] (Atarax), [[Cholestyramine]], [[Rifampicin]], and [[Phenobarbitol]] have all been used to varying degrees of success.
 
Many patients with Alagille's Syndrome will also benefit from a high dose of a multivitamin such as ADEK (contining high levels of vitamins A, D, E, and K), as the reduced bile flow makes it difficult to absorb and utilize these vitamins.
 
==Surgery==
 
Corrective surgery is sometimes needed to repair heart defects associated with Allagile's Syndrome. Also, because the pulmonary arteries are often narrow in Alagilles patients, a catheterization process similar to [[angioplasty]] may be used to widen the arteries to reduce pressure on the heart's pumping valves. In moderate to severe cases, [[stents]] may be placed in the arteries to increase their diameter. Transplantation of the liver has been a successful alternative to medication in severe cases.
 
Recently, a procedure called partial biliary diversion has been used to significantly reduce pruritus, jaundice, and xanthomas caused by poor bile flow. A portion of the bile produced by the liver is directed through a surgically created [[stoma]] into a plastic pouch on the patient's lower right abdomen. The pouch is periodically drained as it fills with bile.
 
''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''
 
==See also==
*[[Progressive familial intrahepatic cholestasis]]
*[[Progressive familial intrahepatic cholestasis]]


==References==
{{Congenital malformations and deformations of digestive system}}
{{Reflist|2}}
[[fr:Syndrome d'Alagille]]
[[pl:Zespół Alagille'a]]
[[pt:Síndrome de Alagille]]


==External links ==
{{WikiDoc Help Menu}}
 
{{WikiDoc Sources}}
*[http://www.cincinnatichildrens.org/svc/alpha/l/liver/diseases/alagille-syndrome.htm Alagille Syndrome, Liver Diseases and Treatments, Cincinnati Children's Hospital Medical Center]
 
==Support groups ==
*[http://www.alagille.org/  Alagille Syndrome Alliance]
 
*[http://www.liverfamilies.org/ LIVER FAMILIES: An online support group for families whose lives have been touched by pediatric liver disease and transplant. ]
 
{{SIB}}
{{Congenital malformations and deformations of digestive system}}


[[Category:Pediatrics]]
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[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Mature chapter]]
[[Category:Overview complete]]
 
 
[[de:Alagille-Syndrom]]
[[fr:Syndrome d'Alagille]]
[[nl:Syndroom van Alagille]]
[[pl:Zespół Alagille'a]]
[[pt:Síndrome de Alagille]]
 
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Latest revision as of 20:08, 27 August 2012

Alagille syndrome
ICD-10 Q44.7 (EUROCAT Q44.71)
ICD-9 759.89
OMIM 118450
DiseasesDB 29085
MeSH D016738

Alagille syndrome Microchapters

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Overview

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Natural History, Complications & Prognosis

Diagnosis

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Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Sandeep Basnet, MBBS, Prashanth Saddala M.B.B.S

Synonyms and keywords: Alagille's syndrome; Alagille-Watson syndrome; arteriohepatic dysplasia (AHD); cardiovertebral syndrome; cholestasis with peripheral pulmonary stenosis; hepatic ductular hypoplasia; hepatofacioneurocardiovertebral syndrome; paucity of interlobular bile ducts; Watson-Miller syndrome

Overview

Historical Perspective

Pathophysiology

Epidemiology and Demographics

Risk Factors

Causes

Differentiating Alagille syndrome from Other Diseases

Natural History, Complications & Prognosis

Diagnosis

Diagnostic Criteria | History and Symptoms | Physical Examination | Laboratory Findingd | Electrocardiogram | X Ray | CT | MRI | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Related Chapters

Template:Congenital malformations and deformations of digestive system


Template:WikiDoc Sources

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