https://scholars.lib.ntu.edu.tw/handle/123456789/525179
標題: | Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia | 作者: | NI-CHUNG LEE Marshall J.D. Collin G.B. Naggert J.K. YIN-HSIU CHIEN Tsai W.-Y. WUH-LIANG HWU |
公開日期: | 2009 | 卷: | 149 | 期: | 4 | 起(迄)頁: | 666-668 | 來源出版物: | American Journal of Medical Genetics, Part A | 摘要: | Alstrom syndrome (AS; OMIM 203800) is an autosomal recessive disorder characterized by cone-rod dystrophy, dilated cardiomyopathy, sensorineural hearing impairment, developmental delay, and most case had both childhood-onset obesity and hyperinsulinemia. Currently, the pathogenesis of this disease is not clear. Here we report on an 18-month-old boy with Alstrom syndrome. He had obesity but with normal insulin and glucose levels. Molecular analysis of the ALMS1 gene revealed a 19 base pair homozygous deletion 11116-11134del in exon 16. His body mass index decreased from 25.0 to 20.7 after calorie restriction for 9 months, and his insulin and glucose levels remained normal. Finding in this case suggests that hyperinsulinemia is a secondary event in Alstr?m syndrome, and early-commenced treatment prevents hyperinsulinemia. ? 2009 Wiley-Liss, Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-63749109345&doi=10.1002%2fajmg.a.32730&partnerID=40&md5=14e6fab60eda8c6e43deedd52414c5ea https://scholars.lib.ntu.edu.tw/handle/123456789/525179 |
ISSN: | 1552-4825 | DOI: | 10.1002/ajmg.a.32730 | SDG/關鍵字: | glucose; insulin; Alstrom syndrome; article; base pairing; body mass; caloric restriction; case report; child; electroretinography; gene deletion; gene mutation; glucose blood level; homozygosity; human; hyperinsulinemia; insulin blood level; male; mutational analysis; nucleotide sequence; obesity; priority journal; retina malformation; Blood Glucose; Body Mass Index; Caloric Restriction; Cardiomyopathy, Dilated; Homozygote; Humans; Hyperinsulinism; Infant; Insulin; Male; Obesity; Proteins; Retinitis Pigmentosa; Sequence Deletion; Syndrome |
顯示於: | 醫學系 |
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