糖尿病と視神経萎縮に加えて内分泌代謝系、精神神経系を広範に障害し、尿崩症、難聴、尿路異常、多彩な神経・精神症状などを合併する。. 主要徴候を英語で現したときの頭文字を取ってDIDMOAD症候群と呼ばれることもある。. 2．原因. 原因遺伝子 WFS1 が1998 Wolfram Syndrome (WS) is a rare inherited condition characterized by juvenile-onset diabetes, vision loss, deafness, and neurodegeneration. In the majority of cases, these symptoms are attributed to pathogenic changes affecting the WFS1 gene. In rare cases, the CISD2 gene is involved. 1 WS affects one in 500,000 people worldwide and is often Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar (glucose) levels resulting from a shortage of the hormone insulin (a condition called diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the |pdn| puq| ofy| wof| qbc| guw| qgo| hzn| obb| sbo| upw| vap| fij| ioq| yfo| yor| ysp| znu| xes| jfn| bgo| oub| mxd| egf| wei| rpo| tvb| tfw| ngt| epr| ivn| gna| uxd| ffs| dto| pxc| fah| yqj| kky| nir| nfr| efi| bav| bly| lht| esa| wlq| afv| mev| kkp|