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ALSTROM SYNDROME INTERNATIONAL SCIENTIFIC ADVISORY BOARD

  Important Urgent information

 For patients with Alström Syndrome admitted to the hospital or outpatient facilities, even if for routine minor surgery, it is vitally important that medical and nursing staff is aware that hypoxia (low blood oxygen levels) can occur very rapidly in patients with Alström Syndrome.   In some patients, this has lead to life threatening heart/lung problems because of the reduced reserve capacity of the cardio respiratory system.  Please use all precautions for monitoring oxygen saturation.

Guidelines for Monitoring the Health of patients with Alström Syndrome

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)

Guidelines and Rationale for Treatment of Endocrinological Disorders and Diabetes Occurring in Alström Syndrome.

New observations of urological dysfunction occurring in Alström Syndrome.

GENETIC TESTING

Genetic evaluation on a research basis:
The Jackson Laboratory, Bar Harbor ME USA     contact: jdm@jax.org

Sequencing of Selected exons:
Centro Genetica Clinica, Porto, Portugal   contact: molecular@cgc.pt

ABSTRACTS

3rd International Alström Syndrome Medical Congress
Padua Italy March 2003
Follow this link for Congress Abstracts

Alström Syndrome Workshop, Morrisburg, Ontario 2001:

Guidelines for diagnosis and monitoring Alström Syndrome
Insulin Resistance, glucose intolerance, and type 2 diabetes
Growth hormone studies in Alström Syndrome
Hearing in Alström Syndrome
Urological findings in Alström Syndrome
Renal dysfunction in Alström Syndrome
Cardiac features of Alström Syndrome
Pathology evaluations
Thoughts on the role of the Primary Care Physician in AS

Interdisciplinary Approaches to Alström Syndrome: First International Conference, Bar Harbor, Maine, 1999.
ABSTRACTS