Abstract
Alström syndrome is a rare ciliopathy affecting about 1 in 1,000,000 individuals. It is characterized by cone-rod dystrophy, insulin resistance, diabetes mellitus, cardiomyopathy, renal & hepatic dysfunction, hearing loss, advanced bone age &hypogonadism. Here, we report a case of insulin resistance which eventually got diagnosed as Alström syndrome.
Keyword: Alström, Ciliopathy, Insulin Resistance, Hearing Loss.
References
- Marshall J., Beck S., Maffei P., et al. (2007) Alstrom syndrome. European Journal of Human Genetics, 15, 1193- 1202.
- Minton, J.A., Owen, K.R., Ricketts, C.J., et al. (2006) Syndromic obesity and diabetes: Changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. The Journal of Clinical Endocrinology & Metabolism, 91, 3110- 3116. doi:10.1210/jc.2005-2633
- NCBI (2012) “Bookshelf” gene reviews: Alström syndrome. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=alstrom
- Marshall, J.D., Bronson, R.T., Collin, G.B., et al. (2005) New Alström syndrome phenotypes based on the evaluation of 182 cases. Archives of Internal Medicine, 165, 675-683. doi:10.1001/archinte.165.6.675
- Joy T, Cao H, Black G et al. Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2007; 2: 49. http://dx.doi.org/10.1186/1750-1172-2-49
- Collin, G.B., Marshall, J.D., Ikeda, A., et al. (2002) Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nature Genetics, 31, 74-78.
- Hearn, T., Renforth, G.L., Spalluto, C., et al. (2002) Mutation of ALMS1, a large gene with a tandem repeat en- coding 47 amino acids, causes Alström syndrome. Nature Genetics, 31, 79-83.
Corresponding Author
Swapnil Jain
Senior Resident, Department of Medicine, SMS Medical College, Jaipur, Rajasthan, India
Phone no-09460636668 Email: This email address is being protected from spambots. You need JavaScript enabled to view it.
DOI: https://dx.doi.org/10.18535/jmscr/v6i2.111
