Journal of Diabetes and Obesity
Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and Literature Review
Department of Molecular and Internal Medicine, Graduate School of Biomedical & Health Sciences, Hiroshima University, Hiroshima, Japan
Yoneda, M., et al. Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and Literature Review. (2017) J diab Obes 4(2): 1- 4.
© 2017 Yoneda, M. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License.
KeywordsAlström syndrome , hyperglycemia, type 2 diabetes, insulin resistance, liver cirrhosis
Alström syndrome (AS) is a rare, autosomal recessive disorder characterized by progressive cone-rod dystrophy, childhood obesity, sensorineural hearing impairment, type 2 diabetes, hypogonadism, and additional abnormalities. Herein we report a 29-year-old man with progressive cone-rod dystrophy, hearing impairment, liver cirrhosis, bilateral cryptorchidism with hypergonadotropic hypogonadism, and type 2 diabetes. He had severe insulin resistance and required high-dose insulin to treat his hyperglycemia. Genetic testing revealed a mutation in exon 8 (c.4746C>A) of the Alström syndrome protein 1 (ALMS1) gene and this is the first report of this mutation in AS. It is difficult to lead to correct diagnosis without genetic test, and physicians should suspect AS when patients show early onset visual dysfunction, obesity, or type 2 diabetes.