Alstrom syndrome medical therapy: Difference between revisions
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===Cardiomyopathy=== | ===Cardiomyopathy=== | ||
Angiotensinogen-converting enzyme (ACE) inhibitors, diuretics, digoxin, and possibly beta-blockers should be used in the treatment of cardiac failure. | Angiotensinogen-converting enzyme (ACE) inhibitors, diuretics, digoxin, and possibly beta-blockers should be used in the treatment of cardiac failure. | ||
===Insulin Resistance/Type 2 Diabetes=== | ===Insulin Resistance/Type 2 Diabetes=== | ||
Should be treated as in the general population unless heart failure and/or liver dysfunction are present. The diabetes mellitus is characterized by insulin resistance, but some individuals respond to a low-sugar, low-fat diet; exercise; and metformin. Glitazones are added to further reduce insulin resistance but must be avoided in the presence of active or treated heart failure. These treatments should be discontinued when the serum creatinine concentration exceeds 200 µmol/L or if cardiomyopathy is evident. Incretin analogues given subcutaneously, as in nonsyndromic type 2 diabetes, are successful in two thirds of cases. | Should be treated as in the general population unless heart failure and/or liver dysfunction are present. The diabetes mellitus is characterized by insulin resistance, but some individuals respond to a low-sugar, low-fat diet; exercise; and metformin. Glitazones are added to further reduce insulin resistance but must be avoided in the presence of active or treated heart failure. These treatments should be discontinued when the serum creatinine concentration exceeds 200 µmol/L or if cardiomyopathy is evident. Incretin analogues given subcutaneously, as in nonsyndromic type 2 diabetes, are successful in two thirds of cases. | ||
Revision as of 03:00, 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]
Medical Therapy
- Anti-congestive measures are employed for cardiomyopathy associated with congestive heart failure
- Treatment of insulin resistance/type 2 diabetes is similar to that of in the general population.
- Nicotinic acid derivatives can be used for hyperlipidemia.
- Consultation with an endocrinologist is necessary if pubertal development and/or menses are abnormal (delayed milestones).
- Treatment of chronic obstructive pulmonary disease and associated infection is as per the accepted guidelines.
Rod-Cone Dystrophy
- Use of red-orange tinted prescription lenses may reduce symptoms early in the disease phase when photodysphoria is significant.
- Instruction in the use of Braille, mobility training, adaptive living skills, and computing skills (including voice recognition and transcription software), and the use of large print reading materials while vision is still present are crucial.
Obesity
Regular exercise and a healthy low calorie diet are recommended for weight control.
Cardiomyopathy
Angiotensinogen-converting enzyme (ACE) inhibitors, diuretics, digoxin, and possibly beta-blockers should be used in the treatment of cardiac failure.
Insulin Resistance/Type 2 Diabetes
Should be treated as in the general population unless heart failure and/or liver dysfunction are present. The diabetes mellitus is characterized by insulin resistance, but some individuals respond to a low-sugar, low-fat diet; exercise; and metformin. Glitazones are added to further reduce insulin resistance but must be avoided in the presence of active or treated heart failure. These treatments should be discontinued when the serum creatinine concentration exceeds 200 µmol/L or if cardiomyopathy is evident. Incretin analogues given subcutaneously, as in nonsyndromic type 2 diabetes, are successful in two thirds of cases.