Abstract
To improve the diagnosis of this type of diabetes, we systematically evaluate the clinical features WFS1-related diabetes. We searched PubMed, China national knowledge infrastructure and Wanfang databases; and collected published papers on WFS1-related diabetes. We divided the patients into nonsyndromic patients with diabetes who were absent of optic atrophy(OA), diabetes insipidus(DI) and deafness(DF) and syndromic patients with diabetes who were accompanied by one of OA, DI or DF. Our study included 538 cases of WFS1-related diabetes from 88 literatures, including 42 patients with nonsyndromic diabetes. Compared with patients with syndromic diabetes, the proportion of patients with heterozygous mutations is greater (26.2% vs. 8.8%). The gene mutation is located in exon 8 and exon 5. The age at diagnosis is higher than that of syndromic diabetes (15.3±2.2 years vs. 7.6±0.3 years), ranging from 1 to 55 years old.95% of patients are diagnosed at ages less than 40 years old. Most patient is not obese. Most patients require insulin therapy, and only a small number of patients take oral hypoglycemic drugs effective. The clinical manifestations of nonsyndromic diabetes caused by WFS1 mutation are similar to type 1 diabetes or early-onset type 2 diabetes. While excluding other common types of monogenic diabetes, patients with this type should be vigilant.View largeDownload slideView largeDownload slide DisclosureY. Li: None. X. Han: None. L. Ji: None.FundingBeijing Science and Technology Commission (Z201100005520012)
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