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The following clinical evaluations are important for patients with Alström Syndrome. 

 

  • Assessment of vision, ERG during childhood
  • Audiometry yearly
  • Height/weight, BMI
  • Heart function tests, ECG and echocardiography yearly or every 6 months, if indicated
  • Fasting glucose, insulin
  • Blood pressure
  • Liver ultrasonography
  • Serum chemistry for
    • renal function (creatinine, uric acid, creatinine-clearance, BUN)
    • liver function (ALT, AST, GGT)
    • lipid panel (cholesterol, triglycerides)
  • Thyroid function (TSH, T4); look for sub-clinical hypothyroidism
  • Gastrointestinal function, esophageal reflux
  • Gonadal function (LH, FSH, testosterone)
  • Pulmonary function tests
  • Assess any urological dysfunction
  • Skeletal abnormalities, scoliosis, kyphosis
  • Neurological evaluation (absense seizures, ataxia)
Additional monitoring recommendations 
Guidelines and Rationale for Treatment of Endocrinological Disorders and Diabetes Occurring in Alström Syndrome
 
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Last Modified: December 12, 2008  

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