Alstrom syndrome overview: Difference between revisions
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==Overview== | ==Overview== | ||
Alström syndrome is a rare [[genetic disorder]] caused by mutations in the [[gene]] [[ALMS1]] which is located on the [[chromosome 2]]. It is among the rarest genetic disorders. | Alström syndrome is a rare [[genetic disorder]] caused by mutations in the [[gene]] [[ALMS1]] which is located on the [[chromosome 2]]. It is among the rarest genetic disorders. | ||
==Historical Perspective== | |||
Alström syndrome was first described by [[Carl-Henry Alström]] in Sweden in 1959. | |||
==Epidemiology and Demographics== | |||
It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and only 800 known cases in 54 countries. | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since [[genetic testing]] is still rare and only available on a limited basis. | |||
===Imaging=== | |||
====Other Imaging Findings==== | |||
[[Electroretinogram]] is used for ophthalmologic evaluation. Screening esophagogastroduodenoscopy can be used to diagnose varices. Similarly upper GI [[endoscopy]] can aid in the diagnosis of [[gastroesophageal reflux]]. | |||
===Other Diagnostic Studies=== | |||
The diagnosis of Alström syndrome relies primarily on clinical findings and/or family history. In some instances the diagnosis can be confirmed by molecular [[genetic testing]]. Sequence analysis of the coding region should be performed: tiered testing with sequencing of select [[exon]]s first, followed by analysis of the entire [[gene]]. The frequency of [[deletion]]s is unknown but deletion/duplication analysis may be clinically indicated in some instances<ref name="pmid16720663">{{cite journal |author=Minton JA, Owen KR, Ricketts CJ, ''et al.'' |title=Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue=8 |pages=3110–6|year=2006 |month=August |pmid=16720663 |doi=10.1210/jc.2005-2633 |url=}}</ref>. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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{{WikiDoc Sources}} | |||
[[CME Category::Cardiology]] | |||
[[Category:Genetic Disease]] | [[Category:Genetic Disease]] | ||
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[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
Latest revision as of 20:04, 14 March 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]
Overview
Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1 which is located on the chromosome 2. It is among the rarest genetic disorders.
Historical Perspective
Alström syndrome was first described by Carl-Henry Alström in Sweden in 1959.
Epidemiology and Demographics
It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and only 800 known cases in 54 countries.
Diagnosis
Diagnostic Criteria
It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.
Imaging
Other Imaging Findings
Electroretinogram is used for ophthalmologic evaluation. Screening esophagogastroduodenoscopy can be used to diagnose varices. Similarly upper GI endoscopy can aid in the diagnosis of gastroesophageal reflux.
Other Diagnostic Studies
The diagnosis of Alström syndrome relies primarily on clinical findings and/or family history. In some instances the diagnosis can be confirmed by molecular genetic testing. Sequence analysis of the coding region should be performed: tiered testing with sequencing of select exons first, followed by analysis of the entire gene. The frequency of deletions is unknown but deletion/duplication analysis may be clinically indicated in some instances[1].
References
- ↑ Minton JA, Owen KR, Ricketts CJ; et al. (2006). "Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome". J. Clin. Endocrinol. Metab. 91 (8): 3110–6. doi:10.1210/jc.2005-2633. PMID 16720663. Unknown parameter
|month=ignored (help)