Alstrom syndrome pathophysiology: Difference between revisions
| Line 10: | Line 10: | ||
* The cone-rod retinal dystrophy usually develops within the first few weeks after birth and the symptoms include [[nystagmus]] and extreme photodysphoria (light sensitivity). It is progressive and by the second decade of life leads to loss of perception of light (blindness). | * The cone-rod retinal dystrophy usually develops within the first few weeks after birth and the symptoms include [[nystagmus]] and extreme photodysphoria (light sensitivity). It is progressive and by the second decade of life leads to loss of perception of light (blindness). | ||
* Most patients slowly develop bilateral sensorineural hearing loss. | * Most patients slowly develop bilateral sensorineural hearing loss. | ||
* [[Dilated cardiomyopathy]] can develop at any age (infants or adolescents). It is seen in at least two-thirds of the patients and can lead to sudden [[cardiac failure]]. | * [[Dilated cardiomyopathy]] can develop at any age (infants or adolescents). It is seen in at least two-thirds of the patients and can lead to sudden [[cardiac failure]]. | ||
* Birth weight is normal but infants develop truncal obesity by the end of first year. | |||
* Birth weight is normal but infants develop truncal obesity by the end of first year. | * Insulin resistance develops in majority of children and is associated with [[acanthosis nigricans]]. By the end of third decade of life it eventually proceeds to type 2 diabetes mellitus. | ||
===Genetics=== | ===Genetics=== | ||
Revision as of 22:00, 21 February 2013
|
Alstrom syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Alstrom syndrome pathophysiology On the Web |
|
American Roentgen Ray Society Images of Alstrom syndrome pathophysiology |
|
Risk calculators and risk factors for Alstrom syndrome pathophysiology |
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]
Pathophysiology
The Jackson Laboratory in Bar Harbor, Maine, USA with the University of Southampton, UK isolated the single gene (ALMS1) responsible for Alstrőm Syndrome. The gene is recessive (it must be passed from both parents for the syndrome to manifest).
The key features are childhood obesity, blindness due to congenital cone-rod retinal dystrophy, and sensorineural hearing loss. Associatedendocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutations having been described.[1]
- The cone-rod retinal dystrophy usually develops within the first few weeks after birth and the symptoms include nystagmus and extreme photodysphoria (light sensitivity). It is progressive and by the second decade of life leads to loss of perception of light (blindness).
- Most patients slowly develop bilateral sensorineural hearing loss.
- Dilated cardiomyopathy can develop at any age (infants or adolescents). It is seen in at least two-thirds of the patients and can lead to sudden cardiac failure.
- Birth weight is normal but infants develop truncal obesity by the end of first year.
- Insulin resistance develops in majority of children and is associated with acanthosis nigricans. By the end of third decade of life it eventually proceeds to type 2 diabetes mellitus.
Genetics
ALMS1 encodes a protein whose function is unknown. Mutations in this gene can lead to production of a dysfunctional protein that might be responsible for the signs and symptoms of Alstrom disease. Alström syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction.
References
- ↑ Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN (2007). "Alstrom syndrome (OMIM 203800): a case report and literature review" (PDF). Orphanet Journal of Rare Diseases. 2 (1): 49. doi:10.1186/1750-1172-2-49. PMC 2266715. PMID 18154657.