Hilbrands Robert, Keymolen Kathelijn, Michotte Alex, Marichal Miriam, Cools Filip, Goossens Anieta, Veld Peter In't, De Schepper Jean, Hattersley Andrew, Heimberg Harry
Diabetes Research Center, Vrije Universiteit Brussel, Laarbeeklaan 103, Jette, 1090, Brussels, Belgium.
Diabetes Clinic, Universitair Ziekenhuis Brussel, Brussels, Belgium.
BMC Med Genet. 2017 May 19;18(1):57. doi: 10.1186/s12881-017-0419-2.
Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.
We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder. Although the sequences of a selected set of genes related to pancreas agenesis or HPE were wild-type, the patient's phenotype suggests a genetic defect that emerges early in embryonic development of brain, gallbladder and pancreas.
Developmental defects of the pancreas and brain can occur together. Identifying the genetic defect may identify a novel key regulator in beta cell development.
胰腺发育不全是新生儿糖尿病极其罕见的病因，它使人们发现了几种对正常胰腺和β细胞发育至关重要的关键转录因子。
我们报告了一例白种女性病例，其患有完全性胰腺发育不全，同时伴有半叶型前脑无裂畸形（HPE），这是一种更常见的脑发育障碍。临床发现后来经尸检得以证实，尸检还发现胆囊发育不全。尽管一组与胰腺发育不全或HPE相关的选定基因序列为野生型，但患者的表型提示存在一种在脑、胆囊和胰腺胚胎发育早期出现的基因缺陷。
胰腺和脑的发育缺陷可能同时发生。确定该基因缺陷可能会发现β细胞发育中的一种新型关键调节因子。
