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Alström Syndrome Scientific Workshop Morrisburg Ottawa 2001

1. ERG in childhood, has patient subcapsular cataract or not.
2. Audiometry, otolaringological evaluation-yearly for all patients.
3. TSH, fT4, fT3 and Sonography of thyroid gland. Replacement with Levothyroxin if deficiency.
4. 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. What kind of bacteria have been found most often in Alström patients with lung disorders? If there is chronic bronchitis, yearly evaluation of lung function, yearly vaccination against influenza, und routinely against measles, rubella, chicken pox and pertussis.
5. Heart - anamnesis, auscultation, ECG for all patients (exercise ECG). Echocardiography-for all patient every 6 month or yearly. T/A –24 hour measurment - yearly. Exists the connection between hyperinsulinemia and hypertension? Holter monitoring every two or three years.
6. Anamnesis of reflux-esophagitis, if there is suspicion, X-ray with barium and esophagogastroduodenoscopy. If need, Omeorazol and Cysaprid (or Metoclopramide).
7. Liver-for all patient liver sonography and Doppler once, ALT (AST too), GGT yearly for all patient. If there are high level of this enzymes -Doppler of liver early, if portal hypertension exist, rubber band ligation and beta-blocker-propranolol or nadolol and very close control.
8. Vaccination against Hepatitis A, if there are no Anti HAV- IgG, and B.
9. Pancreas-insulin –yearly, if hyperinsulinemia, fasting glucose in blood-every 2-3 month in one weeks two times, and diet. Diabetes mellitus, Acarbose? Metformin?
10. Obesity-Weight, height, BMI every 3 months. Diet. Exercise: walking, hiking, biking with parent in tandem, swimming.
11. Kidney-every 6 month urine analysis and creatinin in blood, every 1-2 years sonography of kidney, and prostate. If proteinuria exists, protein electrophoresis in urine, and ACE inhibitors for prophylaxiscaptopril or ramipril (is helpful for nondiabetic nephropathy too), creatinine-every years, uric acid in blood, creatinin clearance, electrolytes in blood.
12. 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. Do we need biopsy of testicles for all male patients?
13. Skin-acanthosis nigricans, alopecia, body hair, hirsutism.
14. Bone and muscles-flat feet, scoliosis, barrel chest.
15. Neurological routinely examination
16. Immunological status of patients