Alstrom syndrome

作者：Marshall Jan D^*; Beck Sebastian; Maffei Pietro; Naggert Juergen K

来源：European Journal of Human Genetics, 2007, 15(12): 1193-1202.

DOI：10.1038/sj.ejhg.5201933

• alstrom syndrome
• ALMS1

Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. Alstrom Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, sensorineural hearing loss, obesity, insulin resistance with hyperinsulinemia, and type 2 diabetes mellitus. Very high incidences of additional disease phenotypes that may severely affect prognosis and survival include endocrine abnormalities, dilated cardiomyopathy, pulmonary fibrosis and restrictive lung disease, and progressive hepatic and renal failure. Other clinical features in some patients are hypertension, hypothyroidism, hyperlipidemia, hypogonadism, urological abnormalities, adult short stature, and bone-skeletal disturbances. Most patients demonstrate normal intelligence, although some reports indicate delayed psychomotor and intellectual development. The life span of patients with Alstrom Syndrome rarely exceeds 40 years. There is no specific therapy for Alstrom Syndrome, but early diagnosis and intervention can moderate the progression of the disease phenotypes and improve the longevity and quality of life for patients.

• 出版日期2007-12