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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Alstrom syndrome

儿科综合

Common symptoms

生理性肥胖、神经性耳聋、视力障碍、输尿管扩张、多饮、血脂异常、多尿、尿崩

The pathology of disease

Alstrom syndrome is autosomal recessive ciliopathy; ALMS1; obesity; type 2 diabetes; sensorineural deafness; retinal degeneration; cardiomyopathy; renal; no polydactyly.

Symptoms

Childhood obesity; type 2 diabetes; sensorineural deafness; retinal degeneration; cardiomyopathy; renal; AR; no polydactyly

Causes

ALMS1 mutation; autosomal recessive; ciliopathy.

Treatment

Treat diabetes/cardiomyopathy/renal; hearing aids; low vision; genetics; multidisciplinary

Dept

Genetics / endocrinology / cardiology / ophthalmology / audiology / nephrology.

Warm reminder: Health education reference only; seek care at regular hospital.