PREVALENCE OF MATURITY ONSET DIABETES OF THE YOUNG (MODY)

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。妊娠期糖尿病影响了3%-5%的孕妇。妊娠期糖尿病妇女的怀孕更有可能与并发症有关，如先兆子痫-毒血症、胎儿巨大儿和肩部难产。青年成熟型糖尿病(MODY)具有明显的孟德尔遗传联系。之前的欧洲研究发现，妊娠期糖尿病妇女中MODY的患病率为4%-6%。人们已经注意到，妊娠期糖尿病患者的孩子体重相差1200克，这取决于引起MODY的突变的存在与否，这取决于它是存在于母亲还是胎儿中。此外，研究还指出，与MODY相关的终生并发症没有典型的1型或2型糖尿病那么严重。也就是说，与患有糖尿病的非MODY患者相比，MODY患者心血管疾病较少，肥胖率通常也较低。到目前为止，还没有关于美国城市糖尿病诊所MODY患病率的前瞻性研究。因此，这项提案的具体目的将是确定MODY在我们的高危妊娠糖尿病诊所的患病率。将对200名怀孕期间患有糖尿病的妇女进行研究，以确定她们的临床特征和妊娠结局。孕妇的血液样本将被用于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，将从脐带获取血液样本，以检测葡萄糖激酶突变。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.