Alstrom syndrome

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Alstrom syndrome (OMIM 203800): a case report and literature review (Orphanet Journal of Rare Diseases 2007, 2:49doi:10.1186/1750-1172-2-49). Authors are Tisha Joy, Henian Cao, Graeme Black et al. Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-onset type 2 diabetes, and hypertriglyceridemia. Thus, AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia, and hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS with a total of 79 disease-causing mutatations having been described. To access the full аrticle, click here