Maturity-onset diabetes of the young (MODY): how many cases are we missing?
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
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DOI：
10.1007/s00125-010-1799-4
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发表时间：
2010-12-01
期刊：
影响因子：
8.2
通讯作者：
Ellard, S.
中科院分区：
文献类型：
--
作者：
Shields, B. M.;Hicks, S.;Ellard, S.
目的/假设年轻人的成熟型糖尿病经常被误诊为1型或2型糖尿病。MODY的正确诊断对于确定治疗很重要，但只能通过分子遗传学检测来证实。我们的目的是比较地区分布的确诊MODY病例在英国，估计最低患病率。方法英国转介基因检测的2,072先证者和1,280亲属在1996年至2009年进行了检查的地区，国家和测试结果。转诊率和患病率计算使用英国人口普查2001figures.Results MODY被证实在1,177（35%）患者，HNF 1A（52%）和GCK突变（32%）是最常见的先证者证实与MODY。先证者转诊率（西南英格兰和苏格兰为50/百万）和MODY诊断患者（北方爱尔兰为5.3/百万，西南英格兰为48.9/百万）存在相当大的地区差异。转诊率和确诊病例高度相关（r=0.96，p 80%的MODY不能通过分子检测诊断。确诊MODY患病率的显著区域差异直接源于转诊率的差异。这可能反映了对MODY的认识差异或获得基因检测的不平等。如果大多数MODY患者需要进行最佳治疗所需的基因诊断，则需要增加诊断检测的转诊。
Aims/hypothesis Maturity-onset diabetes of the young is frequently misdiagnosed as type 1 or type 2 diabetes. A correct diagnosis of MODY is important for determining treatment, but can only be confirmed by molecular genetic testing. We aimed to compare the regional distribution of confirmed MODY cases in the UK and to estimate the minimum prevalence.Methods UK referrals for genetic testing in 2,072 probands and 1,280 relatives between 1996 and 2009 were examined by region, country and test result. Referral rate and prevalence were calculated using UK Census 2001 figures.Results MODY was confirmed in 1,177 (35%) patients, with HNF1A (52%) and GCK mutations (32%) being most frequent in probands confirmed with MODY. There was considerable regional variation in proband referral rates (from 50 per million for South West England and Scotland) and patients diagnosed with MODY (5.3 per million in Northern Ireland, 48.9 per million in South West England). Referral rates and confirmed cases were highly correlated (r=0.96, p80% of MODY is not diagnosed by molecular testing. The marked regional variation in the prevalence of confirmed MODY directly results from differences in referral rates. This could reflect variation in awareness of MODY or unequal access to genetic testing. Increased referral for diagnostic testing is required if the majority of MODY patients are to have the genetic diagnosis necessary for optimal treatment.