Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation.
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation.
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先天性的高胰岛素和进化对磺胺尿素的糖尿病后期由于新型纯合P.L171F ABCC8突变而生命。
DOI：
10.4274/jcrpe.galenos.2018.2018.0077
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发表时间：
2019-02-20
影响因子：
1.9
通讯作者：
Hussain K
中科院分区：
文献类型：
--
作者：
Işık E;Demirbilek H;Houghton JA;Ellard S;Flanagan SE;Hussain K
先天性高胰岛素血症（CHI）是婴儿和儿童持续低血糖的最常见原因。ABCC8和KCNJ11基因的隐性失活突变约占所有CHI病例的50%。HNF1A、HNF4A和ABCC8突变患者在婴儿期发生高胰岛素性低血糖和晚年发生糖尿病已有报道。本文中，我们报告了一名出生时被诊断为CHI的儿童，由于ABCC8外显子4的一种新型纯合错义p.L171F （c.511C>T）突变，在9岁时发展为糖尿病。父母和一个兄弟姐妹是杂合子携带者，而一个患有短暂新生儿低血糖症的弟弟妹妹是突变的纯合子携带者。母亲和（母）叔叔也是杂合突变，在他们生命的第三个十年中患上了糖尿病。磺胺脲（SU）治疗的初步结果提示SU反应性。纯合子ABCC8突变的患者可在新生儿时期出现CHI，高胰岛素血症在临床严重程度和发病年龄方面表现出可变性，并可在以后的生活中引起糖尿病。对ABCC8纯合子突变进行医学管理的患者应长期随访，因为多年后他们患糖尿病的风险可能会增加。
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases. Hyperinsulinaemic hypoglycaemia in infancy and diabetes in later life have been reported in patients with HNF1A, HNF4A and ABCC8 mutations. Herein, we present a child who was diagnosed with CHI at birth, then developed diabetes mellitus at the age of nine years due to a novel homozygous missense, p.L171F (c.511C>T) mutation in exon 4 of ABCC8. The parents and one sibling were heterozygous carriers, whilst a younger sibling who had transient neonatal hypoglycemia was homozygous for the mutation. The mother and (maternal) uncle, who was also heterozygous for the mutation, developed diabetes within their third decade of life. The preliminary results of sulphonylurea (SU) treatment was suggestive of SU responsiveness. Patients with homozygous ABCC8 mutations can present with CHI in the newborn period, the hyperinsulinism can show variability in terms of clinical severity and age at presentation and can cause diabetes later in life. Patients with homozygous ABCC8 mutations who are managed medically should be followed long-term as they may be at increased risk of developing diabetes after many years.
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高胰岛素血糖低血糖的诊断和治疗及其对小儿内分泌学的影响。
DOI：
10.1186/s13633-017-0048-8
发表时间：
2017
期刊：
International journal of pediatric endocrinology
影响因子：
--
作者：
Demirbilek H;Rahman SA;Buyukyilmaz GG;Hussain K
通讯作者：
Hussain K
影响因子：
7.7
作者：
Abdulhadi-Atwan, Maha;Bushmann, Jeremy;Zangen, David H.
通讯作者：
Zangen, David H.
影响因子：
168.9
作者：
Huopio, H;Otonkoski, T;Laakso, M
通讯作者：
Laakso, M
影响因子：
15.9
作者：
Huopio, H;Reimann, F;Otonkoski, T
通讯作者：
Otonkoski, T
影响因子：
158.5
作者：
Pearson, Ewan R.;Flechtner, Isabelle;Hattersley, Andrew T.
通讯作者：
Hattersley, Andrew T.