Alstrom syndrome differential diagnosis: Difference between revisions
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==Differentiating Alstrom syndrome from other Diseases== | ==Differentiating Alstrom syndrome from other Diseases== | ||
Alstrom syndrome is a ciliopathy. It should be differentiated from the following disorders: | Alstrom syndrome is a [[ciliopathy]]. It should be differentiated from the following disorders: | ||
===Bardet-Biedl syndrome=== | ===Bardet-Biedl syndrome=== | ||
[[Bardet-Biedl syndrome]] shares some features of Alström syndrome. The major clinical features of BBS are: | [[Bardet-Biedl syndrome]] shares some features of Alström syndrome. The major clinical features of BBS are: | ||
* Rod-cone dystrophy | * Rod-cone dystrophy | ||
* Postaxial polydactyly | * Postaxial polydactyly | ||
* Central obesity | * Central [[obesity]] | ||
* Cognitive impairment | * Cognitive impairment | ||
* Hypogonadism and | * [[Hypogonadism]] and | ||
* Renal dysfunction | * [[Renal dysfunction]] | ||
A major difference between Alström syndrome and BBS is the timing of the onset of visual problems: | A major difference between Alström syndrome and BBS is the timing of the onset of visual problems: | ||
* In Alström syndrome, visual problems are usually apparent in the first two years of life; in BBS, the average age of onset of visual problems is 8.5 years. | * In Alström syndrome, visual problems are usually apparent in the first two years of life; in BBS, the average age of onset of visual problems is 8.5 years. | ||
* Polydactyly, which is common in BBS, has not been described in Alström syndrome. | * [[Polydactyly]], which is common in BBS, has not been described in Alström syndrome. | ||
* Cognitive impairment is well described in BBS, while in most persons with Alström syndrome intelligence is normal, but delays in early milestones have been reported. | * Cognitive impairment is well described in BBS, while in most persons with Alström syndrome intelligence is normal, but delays in early milestones have been reported. | ||
* Other differences include the relative infrequency of hearing problems (~5%) and diabetes mellitus (5%-10%) in BBS compared with Alström syndrome. | * Other differences include the relative infrequency of hearing problems (~5%) and [[diabetes mellitus]] (5%-10%) in BBS compared with Alström syndrome. [[Mutation]]s in at least 14 different genes are causative. Inheritance is [[autosomal recessive]]. | ||
Other ciliopathies that should be differentiated from Alstrom syndrome include: | Other ciliopathies that should be differentiated from Alstrom syndrome include: | ||
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* Sporadic infantile DCM | * Sporadic infantile DCM | ||
* Mitochondrial disorders | * Mitochondrial disorders | ||
* [[Achromatopsia]] | |||
* Leber congenital amaurosis | |||
* Some forms of [[retinal degeneration]]<ref>{{cite journal | * Some forms of [[retinal degeneration]]<ref>{{cite journal | ||
| last = Badano | | last = Badano | ||
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==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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[[CME Category::Cardiology]] | |||
[[Category:Genetic Disease]] | [[Category:Genetic Disease]] | ||
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[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Needs overview]] | |||
Latest revision as of 19:57, 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]
Differentiating Alstrom syndrome from other Diseases
Alstrom syndrome is a ciliopathy. It should be differentiated from the following disorders:
Bardet-Biedl syndrome
Bardet-Biedl syndrome shares some features of Alström syndrome. The major clinical features of BBS are:
- Rod-cone dystrophy
- Postaxial polydactyly
- Central obesity
- Cognitive impairment
- Hypogonadism and
- Renal dysfunction
A major difference between Alström syndrome and BBS is the timing of the onset of visual problems:
- In Alström syndrome, visual problems are usually apparent in the first two years of life; in BBS, the average age of onset of visual problems is 8.5 years.
- Polydactyly, which is common in BBS, has not been described in Alström syndrome.
- Cognitive impairment is well described in BBS, while in most persons with Alström syndrome intelligence is normal, but delays in early milestones have been reported.
- Other differences include the relative infrequency of hearing problems (~5%) and diabetes mellitus (5%-10%) in BBS compared with Alström syndrome. Mutations in at least 14 different genes are causative. Inheritance is autosomal recessive.
Other ciliopathies that should be differentiated from Alstrom syndrome include:
- Primary ciliary dyskinesia
- Polycystic kidney disease
- Polycystic liver disease
- Nephronophthisis
- Meckel-Gruber syndrome
- Biemond II syndrome
- Wolfram syndrome
- Cohen syndrome
- Sporadic infantile DCM
- Mitochondrial disorders
- Achromatopsia
- Leber congenital amaurosis
- Some forms of retinal degeneration[1]
References
- ↑ Badano, Jose L. (September 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics. 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. Retrieved 2008-06-15. Unknown parameter
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