Haldorsen I S, Vesterhus M, Raeder H, Jensen D K, Søvik O, Molven A, Njølstad P R
Department of Radiology, Haukeland University Hospital, Bergen, Norway.
Diabet Med. 2008 Jul;25(7):782-7. doi: 10.1111/j.1464-5491.2008.02460.x.
Hepatocyte nuclear factor 1B (HNF1B) gene mutation carriers have a systemic disease characterized by congenital malformations in the urogenital tract, diabetes mellitus of maturity-onset diabetes of the young type and dysfunction of the liver and exocrine pancreas. We aimed to investigate pancreatic structure and exocrine function in carriers of HNF1B mutations.
We studied five subjects from two families with the previously reported mutation R137_K161del and the novel mutation F148L in HNF1B. All patients underwent computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP). We measured faecal elastase and serum vitamins D and E.
One of the mutation carriers reported abdominal symptoms. All five subjects had faecal elastase deficiency, three had vitamin D deficiency and two had vitamin E deficiency. Neither CT nor MRCP depicted tissue corresponding to the pancreatic body and tail in the five mutation carriers, indicating agenesis of the dorsal pancreas. The head of the pancreas was slightly atrophic but had normal X-ray attenuation at CT in all patients.
Agenesis of the pancreatic body and tail and pancreatic exocrine dysfunction are parts of the phenotype in HNF1B mutation carriers. This strengthens the evidence for a critical role of HNF1B in development and differentiation of at least the dorsal pancreas.
肝细胞核因子1B（HNF1B）基因突变携带者患有一种全身性疾病，其特征为泌尿生殖道先天性畸形、青年发病的成年型糖尿病以及肝脏和外分泌胰腺功能障碍。我们旨在研究HNF1B突变携带者的胰腺结构和外分泌功能。
我们研究了来自两个家族的5名受试者，他们携带先前报道的HNF1B基因R137_K161del突变和新发现的F148L突变。所有患者均接受了计算机断层扫描（CT）和磁共振胰胆管造影（MRCP）检查。我们检测了粪便弹性蛋白酶以及血清维生素D和维生素E。
一名突变携带者报告有腹部症状。所有5名受试者均存在粪便弹性蛋白酶缺乏，3人维生素D缺乏，2人维生素E缺乏。在5名突变携带者中，CT和MRCP均未显示出与胰体和胰尾相对应的组织，提示背侧胰腺发育不全。所有患者的胰腺头部均有轻度萎缩，但CT显示其X线衰减正常。
胰体和胰尾发育不全以及胰腺外分泌功能障碍是HNF1B突变携带者表型的一部分。这进一步证明了HNF1B在至少背侧胰腺的发育和分化中起关键作用。
