Alstrom syndrome natural history, complications and prognosis: Difference between revisions
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==Natural History== | ==Natural History== | ||
A wide range of clinical variability is observed among individuals with Alström syndrome, including among siblings. The first clinical presentation of Alström syndrome is usually nystagmus caused by cone-rod dystrophy and resulting in childhood blindness. Disease characteristics that are later in onset include truncal obesity that manifests during the first year of life, progressive sensorineural hearing loss, infantile-onset dilated cardiomyopathy or later-onset restrictive cardiomyopathy, insulin-resistant type 2 diabetes mellitus, and hepatic, pulmonary, and renal dysfunction. | A wide range of clinical variability is observed among individuals with Alström syndrome, including among siblings. The first clinical presentation of Alström syndrome is usually nystagmus caused by cone-rod dystrophy and resulting in childhood blindness. Disease characteristics that are later in onset include truncal obesity that manifests during the first year of life, progressive sensorineural hearing loss, infantile-onset dilated cardiomyopathy or later-onset restrictive cardiomyopathy, insulin-resistant type 2 diabetes mellitus, and hepatic, pulmonary, and renal dysfunction. | ||
==Complications== | ==Complications== | ||
* [[Blindness]] | |||
* Blindness | * [[Hearing loss]] | ||
* [[Congestive heart failure]] | |||
* Hearing loss | * [[Cirrhosis]] | ||
* [[Pancreatitis]] | |||
* Congestive heart failure | * [[ESRD]] | ||
* [[Hypothyroidism]] | |||
* Cirrhosis | * [[Pulmonary fibrosis]] | ||
* [[Portal hypertension]] | |||
* Pancreatitis | * [[Type 2 diabetes mellitus]] | ||
* [[Stunted growth]] | |||
* ESRD | |||
* Hypothyroidism | |||
* Pulmonary fibrosis | |||
* Portal hypertension | |||
* Type 2 diabetes mellitus | |||
* Stunted growth | |||
==References== | ==References== |
Revision as of 20:41, 23 February 2013
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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]
Natural History
A wide range of clinical variability is observed among individuals with Alström syndrome, including among siblings. The first clinical presentation of Alström syndrome is usually nystagmus caused by cone-rod dystrophy and resulting in childhood blindness. Disease characteristics that are later in onset include truncal obesity that manifests during the first year of life, progressive sensorineural hearing loss, infantile-onset dilated cardiomyopathy or later-onset restrictive cardiomyopathy, insulin-resistant type 2 diabetes mellitus, and hepatic, pulmonary, and renal dysfunction.
Complications
- Blindness
- Hearing loss
- Congestive heart failure
- Cirrhosis
- Pancreatitis
- ESRD
- Hypothyroidism
- Pulmonary fibrosis
- Portal hypertension
- Type 2 diabetes mellitus
- Stunted growth