Marshall University, Huntington, WV, USA.
J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231165742. doi: 10.1177/23247096231165742.
Hepatocyte nuclear factor-1 beta (HNF1B) gene is predominantly expressed in the liver, kidney, lung, genitourinary tract, and pancreas. It is an important transcription factor that regulates pancreas development. Mutation or absence of this gene is rare and can cause incomplete pancreatic development known as the agenesis of the dorsal pancreas. This rare genetic abnormality is associated with other disorders like maturity-onset diabetes of the young, abnormal liver function tests, genitourinary tract malformation, pancreatitis, and renal cysts. Diagnosing this genetic abnormality is difficult, especially in patients presenting with symptoms specific to only one system. Management is based on disease manifestation and involves a multidisciplinary approach. Our case describes a 51-year-old female with poorly controlled diabetes mellitus and Mullerian duct anomalies who presented with abdominal pain, fatigue, dizziness, and electrolyte derangement. Contrast-enhanced computed tomography (CECT) of the abdomen showed a multicystic kidney and a pancreatic head with a missing body and tail. Further workup revealed an HNF1B mutation.
肝细胞核因子-1β（HNF1B）基因主要在肝脏、肾脏、肺、泌尿生殖道和胰腺中表达。它是一种重要的转录因子，调节胰腺发育。该基因的突变或缺失很少见，可导致称为背胰发育不全的不完全胰腺发育。这种罕见的遗传异常与其他疾病有关，如青少年发病的成年型糖尿病、肝功能检查异常、泌尿生殖系统畸形、胰腺炎和肾囊肿。诊断这种遗传异常很困难，尤其是在仅出现一个系统特定症状的患者中。治疗基于疾病表现，并涉及多学科方法。我们的病例描述了一位 51 岁女性，患有未控制的糖尿病和苗勒管异常，表现为腹痛、疲劳、头晕和电解质紊乱。腹部增强计算机断层扫描（CECT）显示多囊肾和胰头无体尾。进一步检查发现 HNF1B 突变。
