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首页> 外文期刊>Clinical Pediatric Endocrinology >Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation
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Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation

机译：那格列奈对患有复合杂合ABCC8突变的儿童的反应性低血糖糖尿病有效。

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ABCC8 encodes the sulfonylurea receptor 1 (SUR1) subunits of the beta-cell ATP-sensitive potassium (K-ATP) channel playing a critical role in the regulation of insulin secretion, and inactivating mutations in ABCC8 cause congenital hyperinsulinism. Recently, ABCC8 inactivating mutations were reported to be involved in the development of diabetes mellitus later in life. We report a girl who was born macrosomic with transient hypoglycemia and thereafter developed diabetes mellitus accompanied by severe reactive hypoglycemia at the age of 11 yr. An OGTT (oral glucose tolerance test) revealed hyperglycemia due to poor early insulin response and subsequent hypoglycemia due to delayed prolonged insulin secretion. Hypoglycemia was improved by the combination of nateglinide, which stimulates early insulin secretion, and an alpha-glucosidase inhibitor, voglibose. Sequencing of the ABCC8 identified a compound heterozygous mutation (R1420H/F591fs604X), suggesting that this mutation may alter regulation of insulin secretion with advancing age, leading to diabetes mellitus with reactive hypoglycemia from hyperinsulinism. Therefore, long-term follow-up and periodic OGTTs are important for early detection of insulin dysregulation in congenital hyperinsulinism patients carrying the ABCC8 mutation, even though hypoglycemia resolves spontaneously during infancy. Furthermore, nateglinide may be useful therapeutically in the treatment of not only diabetes mellitus but also reactive hypoglycemia.
机译：ABCC8编码β细胞ATP敏感钾（K-ATP）通道的磺酰脲受体1（SUR1）亚基，在胰岛素分泌的调节中起关键作用，而ABCC8的失活突变会导致先天性高胰岛素血症。最近，据报道，ABCC8失活突变参与生命后期的糖尿病发展。我们报道了一个出生于短暂性低血糖的巨大体质女孩，其后在11岁时发展为糖尿病并伴有严重的反应性低血糖。 OGTT（口服葡萄糖耐量试验）显示，由于早期胰岛素反应较差而导致血糖​​过高，而由于胰岛素长期延迟分泌而导致随后的血糖过低。纳格列奈和α-葡萄糖苷酶抑制剂伏格列波糖合用可改善低血糖症，那格列奈可刺激胰岛素的早期分泌。 ABCC8的测序鉴定出复合杂合突变（R1420H / F591fs604X），表明该突变可能随着年龄的增长而改变胰岛素分泌的调节，从而导致糖尿病和高胰岛素反应性低血糖。因此，即使低血糖症在婴儿期自发解决，长期随访和定期OGTT对于早期发现携带ABCC8突变的先天性高胰岛素血症患者的胰岛素失调也很重要。此外，那格列奈不仅可用于治疗糖尿病，而且可用于反应性低血糖症。

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