TESTS AND EVALUATIONS FOR PATIENTS WITH ALSTROM SYNDROME

Tests and Examinations Recommended for Alström Patients

Vision- ERG in childhood, look for subcapsular cataract.
Hearing- Audiometry, otolaringological evaluation-yearly for all patients.
TSH, fT4, fT3 and Sonography of thyroid gland. Replacement with Levothyroxin if deficiency.
Pulmonology-Anamnesis, Auscultation, X-Ray, Spirography -FVC , FEV1 and FEV25-75% for all patient, if they are obstructive, find out, if spastic component exist, active treatment of exacerbation of brochitis-amoxicillin/clavulanat. If there is chronic bronchitis, yearly evaluation of lung function, yearly vaccination against influenza, und routinely against measles, rubella, chicken pox and pertussis.
Heart - anamnesis, auscultation, ECG for all patients (exercise ECG). Echocardiography-for all patient every 6 month or yearly. T/A –24 hour measurment - yearly. Holter monitoring every two or three years.
Anamnesis of reflux-esophagitis, if there is suspicion, X-ray with barium and esophagogastroduodenoscopy. If needed, Omeorazol and Cysaprid (or Metoclopramide).
Liver-for all patients liver sonography and Doppler once, ALT (AST too), GGT yearly for all patient. If there are high level of these enzymes -Doppler of liver early. If portal hypertension exists, band ligation and beta-blocker-propranolol or nadolol and very close control.
Vaccination against Hepatitis A, if there are no Anti HAV- IgG, and B.
Pancreas-evaluation at least yearly. If hyperinsulinemia, fasting blood glucose -every 2-3 months, and diet. Diabetes mellitus, Acarbose? Metformin.
Obesity-Weight, height, BMI every 3 months. Diet. Exercise: walking, hiking, biking with parent in tandem, swimming.
Kidney-every 6 months urine analysis and creatinin in blood. Every 1-2 years sonography of kidney. If proteinuria exists, protein electrophoresis in urine, and ACE inhibitors, creatinine at least every year, uric acid in blood, creatinin clearance, electrolytes in blood.
Sexual function-Anamnesis of erection, libido, menstruation, secondary sexual characteristics, measurement of genitalia, then sonography of penis and testicles, ovaries and uterus. If impotence, Doppler of penis vascular system, spermiogram for 16-17 years old and higher. Examine for Gynecomastia. In blood: Testosterone, FSH, and LH. Testosterone replacement if necessarytransdermal patch or injection.
Skin-acanthosis nigricans, alopecia, body hair, hirsutism.
Bone and muscles-flat feet, scoliosis, barrel chest.
Neurological - routine examination - if indicated, EEG
Immunological status of patients


	Supporting those affected by Alström Syndrome