| الوصف: |
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. There is no cure for Alström syndrome. Developmental delay is seen in almost half of people with Alström syndrome. Treatments target the individual symptoms and can include diet, corrective lenses, hearing aids, medications for diabetes and heart issues and dialysis and transplantation in the case of kidney or liver failure. Prognosis varies depending on the specific combination of symptoms, but individuals with Alström syndrome rarely live beyond 50. Prevalence is fewer than 1 in 1,000,000 individuals in the general population. It was first described by Swedish psychiatrist Carl-Henry Alström and his three associates, B. Hallgren, I. B. Nilsson and H. Asander, in 1959.Ultimately research into the pathogenesis of Alström syndrome should lead to better management and treatment for individuals and have potentially important ramification for other rare ciliopathies, as well as more common cause of obesity, DM and other conditions common in general populations. |
