The unique clinical spectrum of maturity onset diabetes of the young type 3
The unique clinical spectrum of maturity onset diabetes of the young type 3
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DOI：
10.1016/j.diabres.2017.10.024
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发表时间：
2018-01-01
影响因子：
5.1
通讯作者：
Gat-Yablonski, Galia
中科院分区：
文献类型：
--
作者：
Lebenthal, Yael;Shvalb, Naama Fisch;Gat-Yablonski, Galia
年轻人成熟型糖尿病（MODY）的表型变异性使得基因组分析的筛选标准具有挑战性。我们描述了一个HNF 1A-MODY大型家系的临床谱;随着世代的进展，病程和结局变得更差。虽然不常见，但胰腺自身抗体和糖尿病酮症酸中毒不应排除MODY的诊断。(C)2017爱思唯尔B. V.保留所有权利。
Phenotypic variability in maturity-onset diabetes of the young (MODY) makes screening criteria for genomic analysis challenging. We describe the clinical spectrum in a large pedigree with HNF1A-MODY; as generations progressed, the course and outcome became poorer. Although uncommon, pancreatic autoantibodies and diabetes ketoacidosis should not exclude the diagnosis of MODY. (C) 2017 Elsevier B.V. All rights reserved.