PDF(Pubmed)
Abstract：
The evolving landscape of clinical genetics is becoming increasingly relevant in the field of nephrology. HNF1B-associated renal disease presents with a diverse array of renal and extrarenal manifestations, prominently featuring cystic kidney disease and diabetes mellitus. For the genetic analyses, whole exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) were performed. Bioinformatics analysis was performed with Ingenuity Clinical Insights software (Qiagen). The patient\'s electronic record was utilized after receiving informed consent. In this report, we present seven cases of HNF1B-associated kidney disease, each featuring distinct genetic abnormalities and displaying diverse extrarenal manifestations. Over 12 years, the mean decline in eGFR averaged -2.22 ± 0.7 mL/min/1.73 m2. Diabetes mellitus was present in five patients, kidney dysplastic lesions in six patients, pancreatic dysplasia, hypomagnesemia and abnormal liver function tests in three patients each. This case series emphasizes the phenotypic variability and the fast decline in kidney function associated with HNF-1B-related disease. Additionally, it underscores that complex clinical presentations may have a retrospectively straightforward explanation through the use of diverse genetic analytical tools.
摘要：
临床遗传学的发展格局在肾脏病学领域变得越来越重要。HNF1B相关肾脏疾病表现为多种肾脏和肾外表现，以囊性肾病和糖尿病为突出特征。对于基因分析，进行全外显子组测序(WES)和多重连接依赖性探针扩增(MLPA).使用IngenuityClinicalInsights软件(Qiagen)进行生物信息学分析。在获得知情同意后，使用患者的电子记录。在这份报告中,我们介绍了7例HNF1B相关肾脏疾病，每种都具有不同的遗传异常，并表现出不同的肾外表现。超过12年,eGFR的平均下降平均为-2.22±0.7mL/min/1.73m2。5名患者出现糖尿病，六名患者的肾脏发育不良病变，胰腺发育不良,低镁血症和肝功能异常检测各3例。该病例系列强调了与HNF-1B相关疾病相关的表型变异性和肾功能的快速下降。此外,它强调,通过使用不同的遗传分析工具,复杂的临床表现可能具有回顾性简单的解释.
