Liver Adenomatosis and Maturity-Onset Diabetes of the Young (MODY) Type 3 Due to HNF1A Mutation Not Previously Described
Liver Adenomatosis and Maturity-Onset Diabetes of the Young (MODY) Type 3 Due to HNF1A Mutation Not Previously Described
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此前未曾描述过的 HNF1A 突变导致的肝腺瘤病和青少年发病的 3 型糖尿病 (MODY)
DOI：
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发表时间：
2014
期刊：
影响因子：
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通讯作者：
C. Koninckx
中科院分区：
文献类型：
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作者：
M. Alemany;F. M. Macián;Sara León Cariñena;Begoña Polo Miquel;Judith Pérez Rojas;J. Perez;C. Koninckx
MODY(青年成熟型糖尿病)是指不同疾病的异质性亚群，其特点是常染色体显性遗传，在儿童和青年早期具有高外显性和早期表达。它们是由于参与胰岛β细胞形成和功能的因素的遗传缺陷。Mody 3糖尿病在成年人中最常见。肝腺瘤病是一种罕见的疾病。诊断需要在一个健康的实质内存在十个以上的腺瘤，没有肝脏储存性疾病，也没有接受过类固醇治疗。2002年，Bluteau和他的同事发现了这两种疾病的一个共同的遗传缺陷，HNF1A基因的突变。到目前为止，只有5个没有血缘关系的家族因HNF1A突变而患上肝腺瘤病和MODY 3糖尿病。据我们所知，仅有4例18岁以下儿童同时患有这两种疾病，且均为HNF1A基因第4外显子的P291fs突变。我们报告了一个患有肝脏腺瘤病和MODY 3糖尿病的青少年的病例，该病例携带一个以前未被描述的HNF1A基因突变。J内分泌代谢酶。2014年；4(3)：81-85 doi：http://dx.doi.org/10.14740/jem218w
The term MODY (maturity-onset diabetes of the young) is allocated for a heterogeneous subgroup of different diseases, characterized by its autosomal dominant inheritance, with high penetrance and early expression in childhood and early youth. They are due to genetic defects in factors involved in the formation and function of pancreatic beta cells. MODY 3 diabetes is the most common in adults. Liver adenomatosis is a rare disease. Diagnosis requires the presence of more than ten adenomas in a healthy parenchyma, the absence of liver storage diseases, and nor prior steroid treatment. In 2002 Bluteau and colleagues find a common genetic defect for both pathologies, HNF1A gene’s mutation. So far just five unrelated families with liver adenomatosis and MODY 3 diabetes due to HNF1A mutation have been reported. To our knowledge only four cases suffering from both pathologies under the age of 18 have been previously reported, and the mutation detected in all of them is P291fs in exon 4 of HNF1A gene. We present the case of a teenager with liver adenomatosis and MODY 3 diabetes, carrying a not previously described HNF1A gene’s mutation. J Endocrinol Metab. 2014;4(3):81-85 doi: http://dx.doi.org/10.14740/jem218w
影响因子：
4.6
作者：
P. Flodby;D. Liao;A. Blanck;K. Xanthopoulos;I. Hällström
通讯作者：
P. Flodby;D. Liao;A. Blanck;K. Xanthopoulos;I. Hällström
影响因子：
16.2
作者：
Klupa, T;Warram, JH;Krolewski, AS
通讯作者：
Krolewski, AS