GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
复制标题
美国国家单基因糖尿病注册表中的GCK-Mody：经常被误诊和不必要地治疗。
DOI：
10.1007/s00592-016-0859-8
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发表时间：
2016-10
影响因子：
3.8
通讯作者：
Philipson, Louis H.
中科院分区：
文献类型：
--
作者：
Carmody, David;Naylor, Rochelle N.;Bell, Charles D.;Berry, Shivani;Montgomery, Jazzmyne T.;Tadie, Elizabeth C.;Hwang, Jessica L.;Greeley, Siri Atma W.;Philipson, Louis H.
GCK-MODY导致血糖轻度升高，通常不需要治疗。它在所有种族中都有描述，但主要是在高加索欧洲人中。在这里，我们描述了我们的GCK-MODY美国队列。我们检测了美国单基因糖尿病登记处登记的GCK基因杂合突变的检出率，其表型与GCK-MODY一致。我们还评估了队列的转诊模式、治疗和人口统计学，包括种族。在本研究中，在选择用于GCK测序的登记先证者中发现了54.7%的有害杂合GCK突变。49%的受试者此前曾接受过不必要的降糖药物治疗，导致一些受试者出现低血糖和其他不良反应。通过基于研究的测试发现具有GCK突变的先证者的比例在每个种族群体中相似。然而，非洲裔美国人、拉丁裔和亚洲受试者仅占筛查先证者的20.5%，占GCK-MODY患者的17.2%，尽管这些群体的总体糖尿病患病率较高。我们的数据显示，基于临床表型，GCK-MODY的高检出率是可能的，并且在遗传诊断之前，很大一部分患者接受了不适当的降糖治疗。我们还发现，在我们的登记处，少数民族的代表性低，这可能是由于诊断糖尿病基因检测的差异，是一个需要进一步调查的领域。
GCK-MODY leads to mildly elevated blood glucose typically not requiring therapy. It has been described in all ethnicities, but mainly in Caucasian Europeans. Here we describe our United States cohort of GCK-MODY. We examined the rates of detection of heterozygous mutations in the GCK gene in individuals referred to the US Monogenic Diabetes Registry with a phenotype consistent with GCK-MODY. We also assessed referral patterns, treatment, and demography, including ethnicity, of the cohort. Deleterious heterozygous GCK mutations were found in 54.7% of Registry probands selected for GCK sequencing for this study. Forty-nine percent were previously unnecessarily treated with glucose-lowering agents, causing hypoglycemia and other adverse effects in some of the subjects. The proportion of probands found to have a GCK mutation through research based testing was similar across each ethnic group. However, together African American, Latino and Asian subjects represented only 20.5% of screened probands and 17.2% of those with GCK-MODY, despite higher overall diabetes prevalence in these groups. Our data show a high detection rate of GCK-MODY is possible based on clinical phenotype, and that prior to genetic diagnosis, a large percentage are inappropriately treated with glucose-lowering therapies. We also find low minority representation in our Registry, which may be due to disparities in diagnostic diabetes genetic testing, and is an area needing further investigation.
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影响因子：
2.1
作者：
Herman S;Varga D;Deissler HL;Kreienberg R;Deissler H
通讯作者：
Deissler H
影响因子：
8.2
作者：
Shields, B. M.;Hicks, S.;Ellard, S.
通讯作者：
Ellard, S.
影响因子：
16.2
作者：
Chakera, Ali J.;Spyer, Gill;Dunne, Fidelma P.
通讯作者：
Dunne, Fidelma P.
影响因子：
3.7
作者：
Pinelli M;Acquaviva F;Barbetti F;Caredda E;Cocozza S;Delvecchio M;Mozzillo E;Pirozzi D;Prisco F;Rabbone I;Sacchetti L;Tinto N;Toni S;Zucchini S;Iafusco D;Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology
通讯作者：
Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology
影响因子：
3.2
作者：
Estalella, Itziar;Rica, Itxaso;Castano, Luis
通讯作者：
Castano, Luis