Molecular background and clinical characteristics of HNF1A MODY in a Polish population
Molecular background and clinical characteristics of HNF1A MODY in a Polish population
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DOI：
10.1016/j.diabet.2008.05.004
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发表时间：
2008-11-01
影响因子：
7.2
通讯作者：
Malecki, M. -T.
中科院分区：
文献类型：
--
作者：
Skupien, J.;Gorczynska-Kosiorz, S.;Malecki, M. -T.
目的. - 了解受影响个体中的三源性糖尿病的分子背景影响临床实践。HNF1A基因突变是MODY最常见的原因。本研究的目的是确定波兰人群中HNF1A MODY的遗传和临床特征，以及糖尿病并发症和肾畸形的患病率。- 我们确定了47个符合MODY标准的早发常染色体显性糖尿病家族。突变筛查包括HNF1A基因的直接测序。患者的特征包括临床数据、人体测量和生化参数。对所有HNF1A突变携带者进行超声检查以寻找肾畸形。- 我们确定了13个HNF1A MODY家族，并检查了56个突变携带者，包括46名糖尿病患者。糖尿病患者HbA（1c）水平平均为7.5%。我们发现47.7%的MODY患者有糖尿病视网膜病变，而25%的患者有糖尿病肾病。在来自3个家系的5例HNF1A突变携带者中，发现了肾脏发育畸形，其中2例（3.6%）有1个功能正常的肾脏。- 在波兰人群中首次系统搜索HNF1A突变，发现它们是MODY的常见原因。在该人群中，HNF1A突变携带者的特点是糖尿病并发症的高患病率。此外，在一些突变携带者中发现肾脏发育异常。(C)2008年，Elsevier Masson SAS。All rights reserved.
Purpose. - Knowing the molecular background of trionogenic diabetes in affected individuals influences the clinical practice. Mutations in the HNF1A gene are the most frequent cause of MODY. The aim of the present study was to identify the genetic and clinical characteristics of HNF1A MODY in a Polish population, and the prevalence of diabetic complications and renal malformations.Methods. - We identified 47 families with the early-onset, autosomal-dominant form of diabetes that met the criteria of MODY. Mutation screening involved direct sequencing of the HNF1A gene. Patients' characteristics included clinical data, anthropometric measurements and biochemical parameters. The search for renal malformations involved ultrasound examination of all HNF1A mutation carriers.Results. - We identified 13 HNF1A MODY families and examined 56 mutation carriers, including 46 diabetic patients. The average HbA(1c) level among the diabetics was 7.5%. We identified diabetic retinopathy in 47.7% of the MODY patients, while diabetic nephropathy was present in 25%. In five HNF1A mutation carriers from three families, renal developmental malformations were identified, including one functioning kidney in two (3.6%) of them.Conclusion. - This first systematic search for HNF1A mutations in a Polish population revealed that they are a frequent cause of MODY. In this population, HNF1A mutation carriers were characterized by a high prevalence of diabetic complications. In addition, renal developmental abnormalities were found in some mutation carriers. (C) 2008 Elsevier Masson SAS. All rights reserved.