两例胰岛素受体基因复合杂合突变的A型胰岛素抵抗相关病例。
Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene.
作者信息
Ogawa Wataru, Iwamoto Kazuya, Mori Hiroyuki, Hashiramoto Mitsuru, Miyake Kazuaki, Sakaguchi Kazuhiko, Kasuga Masato
机构信息
Department of Internal Medicine, Division of Diabetes, Metabolism, and Endocrinology, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
出版信息
Diabetes Res Clin Pract. 2009 Mar;83(3):e75-7. doi: 10.1016/j.diabres.2008.12.002. Epub 2009 Jan 9.
We describe two sisters with type A insulin resistance. In contrast to common situation for this genetic disorder, the sisters harbored compound heterozygous mutations in the insulin receptor gene associated with mild glucose intolerance. The cases highlight the diversity of clinical phenotypes associated with mutations of the insulin receptor gene.
我们描述了两名患有A型胰岛素抵抗的姐妹。与这种遗传性疾病的常见情况不同，这对姐妹在胰岛素受体基因中存在复合杂合突变，伴有轻度糖耐量异常。这些病例凸显了与胰岛素受体基因突变相关的临床表型的多样性。
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