ABSTRACT
Objective To analyze the clinical feature, diagnosis and treatment of Alstrom syndrome. Method The clinical data of a case of Alstrom syndrome and the result of her ALMS1 sequencing by the two generation sequencing were retrospectively reviewed. Results The 12 year and 10 month old female suffered from dilated cardiomyopathy, obesity, optic nerve diseases, sensorineural hearing loss, high blood glucose and irregular menstruation since one month of birth. Laboratory examination showed she had high testosterone level, hyperglycemia, hyperlipidemia and fatty liver. High-throughput sequencing confirmed there was ALMS1 gene mutation which includes hybrid frameshift mutations of c.5418delC and p.Y1807Tfs*23, and heterozygous nonsense mutation of c.10549C>T and p.Q3517*, and c.5418delC was a new variation reported for the first time. Conclusion Alstrom syndrome is an autosomal recessive genetic disease, which is characterized by multiple organ dysfunction and metabolic syndrome, and can be diagnosed by gene detection.