由于在胰腺β细胞中编码ATP敏感钾通道的ABCC8 / KCNJ11基因突变引起的隐性和显性先天性高胰岛素血症的临床特征。,Journal of Pediatric Endocrinology and Metabolism

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由于在胰腺β细胞中编码ATP敏感钾通道的ABCC8 / KCNJ11基因突变引起的隐性和显性先天性高胰岛素血症的临床特征。
Journal of Pediatric Endocrinology and Metabolism ( IF 1.3 ) Pub Date : 2012-02-09 , DOI: 10.1515/jpem.2011.347
Gönül Oçal ₁ , Sarah E Flanagan , Bülent Hacihamdioğlu , Merih Berberoğlu , Zeynep Siklar , Sian Ellard , Senay Savas Erdeve , Emel Okulu , Ilke Mungan Akin , Begum Atasay , Saadet Arsan , Aydin Yağmurlu

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背景技术β细胞K（ATP）通道的ABCC8 / KCNJ11中的隐性突变通常会导致严重的医学上无反应的高胰岛素低血糖症（HH）。这些基因中较罕见的显性突变已被描述，这些突变主要导致较轻的医学响应性先天性高胰岛素血症。这些基因中较罕见的显性突变已被描述，这些突变主要导致较轻的医学响应性先天性高胰岛素血症。迄今为止，具有显性突变的患者的表型似乎与具有隐性突变的患者的表型不同，因为大多数患者对二氮嗪治疗有反应。这些显性的ABCC8或KCNJ11基因突变在成年后是否易患糖尿病方面存在争议。我们报告了5例新生儿HH患者的临床和遗传学特征，3个具有隐性遗传的K（ATP）通道突变，另外2个具有显性作用的突变。由于药物治疗失败，具有隐性K（ATP）通道突变的患者接受了几乎全胰腺切除术。具有新的显性突变的两个兄弟姐妹对药物治疗表现出良好的反应。尽管HH在婴儿早期就已缓解，但他们在青春期前就患有糖尿病。他们的母亲，姨母和祖父具有相同的突变，没有新生儿HH的病史。结论我们的两名具有ABCC8显性突变的患者的临床表现较疾病的散发性患者轻，因为他们对药物治疗反应良好。隐性K（ATP）通道突变的患者接受了近全胰腺切除术。具有新的显性突变的两个兄弟姐妹对药物治疗表现出良好的反应。尽管HH在婴儿早期就已缓解，但他们在青春期前就患有糖尿病。他们的母亲，姨母和祖父具有相同的突变，没有新生儿HH的病史。结论我们的两名具有ABCC8显性突变的患者的临床表现较疾病的散发性患者轻，因为他们对药物治疗反应良好。隐性K（ATP）通道突变的患者接受了近全胰腺切除术。具有新的显性突变的两个兄弟姐妹对药物治疗表现出良好的反应。尽管HH在婴儿早期就已缓解，但他们在青春期前就患有糖尿病。他们的母亲，姨母和祖父具有相同的突变，没有新生儿HH的病史。结论我们的两名具有ABCC8显性突变的患者的临床表现较疾病的散发性患者轻，因为他们对药物治疗反应良好。母阿姨和外祖母具有相同的突变，而没有新生儿HH的任何病史。结论我们的两名具有ABCC8显性突变的患者的临床表现较疾病的散发性患者轻，因为他们对药物治疗反应良好。母阿姨和外祖母具有相同的突变，而没有新生儿HH的任何病史。结论我们的两名具有ABCC8显性突变的患者的临床表现较疾病的散发性患者轻，因为他们对药物治疗反应良好。

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Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.

BACKGROUND Recessive mutations in ABCC8/KCNJ11 of beta-cell K(ATP) channel generally cause severe medically unresponsive hyperinsulinemic hypoglycemia (HH). Rarer dominant mutations in these genes have been described that mostly cause milder, medically responsive congenital hyperinsulinism. Rarer dominant mutations in these genes have been described that mostly cause milder, medically responsive congenital hyperinsulinism. To date the phenotype of patients with dominant mutations seems to be different from those with recessive mutations as the majority of patients are responsive to diazoxide therapy. Controversy exists on whether these dominant ABCC8 or KCNJ11 genes mutations predispose to diabetes mellitus in adulthood or not. SUBJECTS We report the clinical and genetic characteristics of five patients with neonatal HH, three had recessively inherited K(ATP) channel mutations and two with a dominantly acting mutation. As a result of failure to medical therapy, patients with recessive K(ATP) channel mutations underwent a near total pancreatectomy. Two siblings with a novel dominant mutation showed good response to medical treatment. Although the HH remitted in early infancy, they became diabetic at the prepubertal age. Their mother, maternal aunt and maternal grandfather had the same mutation without any medical history of neonatal HH. CONCLUSION The clinical presentation of our two patients with a dominant ABCC8 mutation was milder than that of patients with the resessive form of the disease as they responded well to medical management.

更新日期：2019-11-01

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