A review on Alstrom Syndrome

RENATT  C FRANCIS 1, *, MATEW GEORGE 2, LINCY JOSEPH 3 , SARANYA SASI 4 and SRUTHI KRISHNA P K 5

1 Department of Pharmacy practice, Holy queen college of pharmaceutical sciences and research, Puthurthy, Wadakkanchery, Thrisur, Kerala, India.
2 Department of Pharmacology, Holy queen college of pharmaceutical sciences and research, Puthurthy, Wadakkanchery, Thrisur, Kerala, India.
3 Department of Pharmaceutical chemistry, Holy queen college of pharmaceutical sciences and research, Puthurthy, Wadakkanchery, Thrisur, Kerala, India.
4 Department of Pharmaceutics, Holy queen college of pharmaceutical sciences and research, Puthurthy, Wadakkanchery, Thrisur, Kerala, India.
5 Department of Pharmacognosy, Holy queen college of pharmaceutical sciences and research, Puthurthy, Wadakkanchery, Thrisur, Kerala, India.
 
Review
International Journal of Science and Research Archive, 2023, 08(01), 826–831.
Article DOI: 10.30574/ijsra.2023.8.1.0151
Publication history: 
Received on 01 January 2023; revised on 11 February 2023; accepted on 14 February 2023
 
Abstract: 
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.
 
Keywords: 
Alström syndrome; Ciliopathy; Truncal obesity; ALMS1; Autosomal recessive genetic disorder
 
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