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妊娠糖尿病与受孕前后的遗传咨询

Diabetes mellitus in pregnancy and periconceptional genetic counseling.

作者信息

Hagay Z, Reece E A

机构信息

Department of Obstetrics and Gynecology, Temple University School of Medicine, Philadelphia, Pennsylvania.

出版信息

Am J Perinatol. 1992 Mar;9(2):87-93. doi: 10.1055/s-2007-994678.

DOI:10.1055/s-2007-994678
PMID:1590874
Abstract

Gestational diabetes constitutes 90% of all pregnant diabetic patients, whereas insulin-dependent diabetes mellitus (IDDM) and non-insulin-dependent diabetes mellitus (NIDDM) together account for the remaining 10%. Diabetes is considered a heterogeneous disease with a continuous spectrum between IDDM and NIDDM. It is believed that gestational diabetes is also a heterogeneous disorder representing, at least in part, patients who are destined to develop in later life either IDDM or NIDDM. Studies in identical twins have shown clear-cut differences in the genetic inheritance of IDDM and NIDDM. Nearly 100% of identical twins were found to be concordant for NIDDM; whereas in IDDM the concordance rate ranges between 20 and 50%. This concordant pattern indicates a higher genetic contribution in NIDDM than IDDM. Furthermore, IDDM is an HLA-linked disorder, and NIDDM is not. The exact mechanism of inheritance of IDDM and NIDDM is not known; therefore the information used in genetic counseling is based on empirical risk estimates. Recent information demonstrates that IDDM is transmitted less frequently to the offspring of diabetic mothers than diabetic fathers (1.3% versus 6%). The estimated risk of recurrence of IDDM to offsprings with one already affected sibling and unaffected parents is 5 to 6%. Additionally, the empirical risk of NIDDM first-degree relatives developing diabetes is much higher than the observed in IDDM relatives, 15% for first-degree relatives and 60 to 75% when both parents have NIDDM.(ABSTRACT TRUNCATED AT 250 WORDS)

摘要

妊娠期糖尿病占所有妊娠糖尿病患者的90%,而胰岛素依赖型糖尿病(IDDM)和非胰岛素依赖型糖尿病(NIDDM)共占其余的10%。糖尿病被认为是一种异质性疾病,在IDDM和NIDDM之间存在连续的谱系。据信,妊娠期糖尿病也是一种异质性疾病,至少部分代表那些在以后生活中注定会发展为IDDM或NIDDM的患者。对同卵双胞胎的研究表明,IDDM和NIDDM在遗传继承方面存在明显差异。发现近100%的同卵双胞胎患NIDDM是一致的;而在IDDM中,一致率在20%至50%之间。这种一致模式表明NIDDM的遗传贡献比IDDM更高。此外,IDDM是一种与HLA相关的疾病,而NIDDM不是。IDDM和NIDDM的确切遗传机制尚不清楚;因此,遗传咨询中使用的信息基于经验风险估计。最近的信息表明,IDDM从糖尿病母亲传给后代的频率低于糖尿病父亲(1.3%对6%)。有一个患病同胞且父母未患病的后代患IDDM的复发风险估计为5%至6%。此外,NIDDM一级亲属患糖尿病的经验风险远高于IDDM亲属,一级亲属为15%,父母双方都患NIDDM时为60%至75%。(摘要截于250字)

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Diabetes mellitus in pregnancy and periconceptional genetic counseling.妊娠糖尿病与受孕前后的遗传咨询
Am J Perinatol. 1992 Mar;9(2):87-93. doi: 10.1055/s-2007-994678.
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