PREVALENCE OF MATURITY ONSET DIABETES OF THE YOUNG (MODY)

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。妊娠期糖尿病影响3-5%的妊娠。妊娠期糖尿病患者的妊娠更有可能出现并发症，如先兆子痫毒血症、胎儿巨大儿和肩难产。年轻人的成熟型糖尿病（MODY）具有明确的孟德尔遗传联系。欧洲先前的研究发现，MODY在妊娠期糖尿病妇女中患病率为4-6%。值得注意的是，妊娠期糖尿病患者的孩子有1200克的体重差异，这取决于是否存在导致MODY的突变，这取决于是否存在于母亲或胎儿中。此外，研究指出，与MODY相关的终身并发症比典型的1型或2型糖尿病更轻。也就是说，MODY患者比非MODY糖尿病患者有更少的心血管疾病和更少的肥胖。到目前为止，在美国城市糖尿病诊所还没有关于MODY患病率的前瞻性研究。因此，本建议的具体目的是确定MODY在高危妊娠糖尿病诊所的患病率。将对200名妊娠期糖尿病妇女进行研究，以确定她们的临床特征和妊娠结局。将获得母体血液样本以评估葡萄糖激酶和其他导致临床糖尿病的β细胞突变。分娩后，将从脐带获得血液样本，检查葡萄糖激酶突变。将对婴儿进行人体测量。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Gestational diabetes affects between 3-5% of all pregnancies. The pregnancies of women with gestational diabetes are more likely to be associated with complications such as pre-eclampsia-toxemia, fetal macrosomia and shoulder dystocia. Maturity onset diabetes of the young (MODY) has a clear mendelian genetic link. Previous European studies have found 4-6% prevalence of MODY among women with gestational diabetes. It has been noted that the children of gestational diabetics had a 1200 gram weight difference based on the presence or absence of the mutation which causes MODY, depending if it was present in the mother or fetus. Furthermore, studies have noted that the lifelong complications associated with MODY are less severe than typical type 1 or 2 diabetes. That is, MODY patients have less cardiovascular disease and are typically less obese than non - MODY individuals with diabetes. There have been no prospective studies to date looking at the prevalence of MODY in an urban U.S. diabetes clinic. Hence, the specific aim of this proposal will be to determine the prevalence of MODY in our High-risk pregnancy diabetes clinic. Two hundred women with diabetes in pregnancy will be studied in order to determine their clinical characteristics and pregnancy outcomes. Maternal blood samples will be obtained for evaluation of glucokinase and other beta cell mutations resulting in clinical diabetes. After delivery, blood samples will be obtained from the umbilical cord for glucokinase mutations. Anthropometric measurements will be taken on the baby.