성인에서 제2형 당뇨병을 동반한 울프람 유사질환

• Published in: Endocrinology and metabolism (Seoul) Vol. 25; no. 2; pp. 131 - 134
• Main Authors: 최승욱, Sung Uk Choi, 배수경, Soo Kyung Bae, 김현수, Hyun Soo Kim, 김경록, Kyung Rok Kim, 허기환, Ki Hwan Hur, 임성협, Sung Hyup Lim, 홍영애, Young Ae Hong, 정성창, Sung Chang Chung
• Format: Journal Article
• Language: Korean
• Published: 대한내분비학회 30.06.2010
• Subjects: WFS1-related disorder; Wolfram like disorder; Wolfram syndrome
• ISSN: 2093-596X; 2093-5978

울프람 유사 질환은 WFS1 관련질환 중 하나이며 WFS1 관련질환은 당뇨, 시신경 위축, 난청 등을 특징으로 하는 유전질환이다. 아직까지 유병률에 비해서 국내에서 보고된 바가 없다. 이는 일반적으로 의료인에게 WFS1 관련 질환이 아직까지 보편적으로 알려져 있는 않은 것과도 관련 있다고 하겠다. 이른 시기에 당뇨, 청력 소설 및 시신경 위축이 있다면 WFS1 관련 질환을 염두에 두어야 한다. 저자들은 WFS1에 대한 WFS1 유전자 돌연변이 보고는 전 세계적으로 다양하게 보고되고 있으나 국내에선 아직 보고된 바가 없어 본 예를 보고하는 바이다. Wolfram-like disorder is one of the WFS1-related disorders that are caused by mutation of the WFS1 genes. WFS1-related disorders are classified as Wolfram syndrome, Wolfram like disorder and nonsyndromic low-frequency sensorineural hearing loss (DFNA6/14/38). Wolfram syndrome is known to DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness), and it is an autosomal-recessive disorder that predisposes a patient to developing type 1 diabetes in association with progressive optic atrophy, and the disease shows various phenotypes. Wolfram like disorder is an autosomal-dominant disorder that predisposes a patient to develop type 2 diabetes in association with optic atrophy and hearing impairment. We experienced a case of Wolfram like disorder with diabetes, optic atrophy and sensorineural hearing loss in a 28-year-old woman who was admitted to our hospital. Our case demonstrated the E737K missense mutation on the WFS1 gene, which has been previously reported in the medical literature. The diagnosis of WFS1-related disorder was confirmed by the clinical features and molecular genetic testing of the WFS1 gene. (Endocrinol Metab 25:131-134, 2010)