背侧胰腺发育不全的研究进展

Recent advances in agenesis of the dorsal pancreas

摘要:

背侧胰腺发育不全（ADP）是一种极为罕见的先天性胰腺发育异常，其核心特征为胰体及胰尾缺如或发育不全。该疾病的发生与胚胎期腹背胰芽发育异常密切相关，受多基因调控网络影响，其中HLXB9、HNF1B、PDX1、PTF1A、GATA4和GATA6等关键转录因子在胰腺形态建成过程中发挥重要作用。ADP患者的临床表现差异较大，可无症状，也可表现为腹痛、糖尿病或胰腺炎等。影像学检查（包括超声、CT、磁共振胆胰管成像及经内镜逆行胆胰管造影）是确诊的主要手段，特征性表现为胰体尾缺如及胰头代偿性增大。ADP常合并肾、胆道、心血管或生殖系统等多器官发育异常。治疗以对症支持为主，糖尿病患者需胰岛素替代治疗，外分泌功能不足者可予胰酶补充。随着基因测序及干细胞技术的发展，对ADP的发病机制、遗传背景及潜在干预手段的研究不断深入。本文综述ADP的胚胎学与遗传学基础、临床表现、诊断及治疗进展，以期为临床诊治和未来研究提供参考。

Abstract:

Agenesis of the dorsal pancreas (ADP) is an extremely rare congenital pancreatic malformation characterized by the absence or hypoplasia of the pancreatic body and tail. Its pathogenesis is closely related to abnormal embryonic development of the ventral and dorsal pancreatic buds, governed by a complex network of transcription factors, including HLXB9, HNF1B, PDX1, PTF1A, GATA4, and GATA6. The clinical spectrum of ADP is highly variable, ranging from asymptomatic cases to manifestations such as abdominal pain, diabetes mellitus, or pancreatitis. Imaging modalities-including ultrasonography, CT, magnetic resonance cholangiopancreatography, and endoscopic retrograde cholangio-pancreatography-serve as the main diagnostic tools, with characteristic findings of absent pancreatic body and tail accompanied by compensatory enlargement of the pancreatic head. ADP is frequently associated with congenital anomalies of the kidney, biliary tract, cardiovascular system, or genital organs. Management is primarily symptomatic, with insulin replacement for diabetes and pancreatic enzyme supplementation for exocrine insufficiency. Advances in genetic sequencing and stem cell research have deepened understanding of the pathogenesis, genetic background, and potential therapeutic strategies of ADP. This review summarizes current progress in embryology, genetics, clinical features, diagnosis, and treatment of ADP, aiming to improve clinical recognition and guide future investigations.