{"title":"一名 1B 型糖尿病患者通过眼科筛查早期诊断出沃尔夫拉姆综合征:病例报告。","authors":"Takahide Kokumai, Shigeru Suzuki, Noriko Nishikawa, Hinako Yamamura, Tokuo Mukai, Yusuke Tanahashi, Satoru Takahashi","doi":"10.4274/jcrpe.galenos.2022.2022-4-11","DOIUrl":null,"url":null,"abstract":"<p><p>Wolfram syndrome (WS) is a monogenic diabetes caused by variants of the WFS1 gene. It is characterized by diabetes mellitus (DM) and optic atrophy. Individuals with WS initially present with autoantibody-negative type 1 DM (type 1B DM; T1BDM). The diagnosis is often delayed or misdiagnosed, even after visual impairment becomes apparent. We report a case of WS diagnosed by ophthalmologic screening before the appearance of visual impairment. A 7-year-old male patient developed T1BDM at the age of 3 years. At 6 years of age, his endogenous insulin secretion decreased but was not completely absent, and glycemic control was good with insulin treatment. Fundus examination at that time revealed optic nerve head pallor, and <i>WFS1</i> gene analysis confirmed a compound heterozygous variant (c.2483delinsGGA/c.1247T>A). Ophthalmological screening can help in early diagnosis of WS in T1BDM, especially when endogenous insulin secretion is preserved, which would facilitate effective treatment.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.5000,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938529/pdf/","citationCount":"0","resultStr":"{\"title\":\"Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report\",\"authors\":\"Takahide Kokumai, Shigeru Suzuki, Noriko Nishikawa, Hinako Yamamura, Tokuo Mukai, Yusuke Tanahashi, Satoru Takahashi\",\"doi\":\"10.4274/jcrpe.galenos.2022.2022-4-11\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Wolfram syndrome (WS) is a monogenic diabetes caused by variants of the WFS1 gene. It is characterized by diabetes mellitus (DM) and optic atrophy. Individuals with WS initially present with autoantibody-negative type 1 DM (type 1B DM; T1BDM). The diagnosis is often delayed or misdiagnosed, even after visual impairment becomes apparent. We report a case of WS diagnosed by ophthalmologic screening before the appearance of visual impairment. A 7-year-old male patient developed T1BDM at the age of 3 years. At 6 years of age, his endogenous insulin secretion decreased but was not completely absent, and glycemic control was good with insulin treatment. Fundus examination at that time revealed optic nerve head pallor, and <i>WFS1</i> gene analysis confirmed a compound heterozygous variant (c.2483delinsGGA/c.1247T>A). Ophthalmological screening can help in early diagnosis of WS in T1BDM, especially when endogenous insulin secretion is preserved, which would facilitate effective treatment.</p>\",\"PeriodicalId\":48805,\"journal\":{\"name\":\"Journal of Clinical Research in Pediatric Endocrinology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2024-03-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10938529/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Research in Pediatric Endocrinology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4274/jcrpe.galenos.2022.2022-4-11\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/8/19 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Research in Pediatric Endocrinology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4274/jcrpe.galenos.2022.2022-4-11","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/8/19 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report
Wolfram syndrome (WS) is a monogenic diabetes caused by variants of the WFS1 gene. It is characterized by diabetes mellitus (DM) and optic atrophy. Individuals with WS initially present with autoantibody-negative type 1 DM (type 1B DM; T1BDM). The diagnosis is often delayed or misdiagnosed, even after visual impairment becomes apparent. We report a case of WS diagnosed by ophthalmologic screening before the appearance of visual impairment. A 7-year-old male patient developed T1BDM at the age of 3 years. At 6 years of age, his endogenous insulin secretion decreased but was not completely absent, and glycemic control was good with insulin treatment. Fundus examination at that time revealed optic nerve head pallor, and WFS1 gene analysis confirmed a compound heterozygous variant (c.2483delinsGGA/c.1247T>A). Ophthalmological screening can help in early diagnosis of WS in T1BDM, especially when endogenous insulin secretion is preserved, which would facilitate effective treatment.
期刊介绍:
The Journal of Clinical Research in Pediatric Endocrinology (JCRPE) publishes original research articles, reviews, short communications, letters, case reports and other special features related to the field of pediatric endocrinology. JCRPE is published in English by the Turkish Pediatric Endocrinology and Diabetes Society quarterly (March, June, September, December). The target audience is physicians, researchers and other healthcare professionals in all areas of pediatric endocrinology.