背侧胰腺发育不全(agenesis of the dorsal pancreas,ADP)是一种先天性胰腺发育畸形,其特征性表现为胰腺颈体尾部未发育或发育不全,起病隐匿,多数患者无临床症状,部分患者表现为腹部疼痛[1]。既往基因检测研究显示,胰腺发育不全可能与P...背侧胰腺发育不全(agenesis of the dorsal pancreas,ADP)是一种先天性胰腺发育畸形,其特征性表现为胰腺颈体尾部未发育或发育不全,起病隐匿,多数患者无临床症状,部分患者表现为腹部疼痛[1]。既往基因检测研究显示,胰腺发育不全可能与PDX1、PTF1A、GATA4、GATA6、HNF1A和HNF1B等基因突变相关[2]。展开更多
报告1例青少年起病的成人型糖尿病(maturity-onset diabetes of the young,MODY)3型(MODY3)合并5型(MODY5)患者的临床特征、诊断及治疗,并复习相关文献。利用MODY(1~14型)基因外显子二代测序和Sanger测序验证MODY患者及其母亲,结合临床...报告1例青少年起病的成人型糖尿病(maturity-onset diabetes of the young,MODY)3型(MODY3)合并5型(MODY5)患者的临床特征、诊断及治疗,并复习相关文献。利用MODY(1~14型)基因外显子二代测序和Sanger测序验证MODY患者及其母亲,结合临床表型及基因检测结果,该患者诊断为MODY3合并MODY5,给予胰岛素及利格列汀治疗,观察血糖变化。临床医师应提高对MODY临床表型的认识,对于合并先天性胰腺和肾脏发育不全、高密度脂蛋白胆固醇升高,无自发酮症、胰岛素分泌缺陷,胰岛自身抗体阴性,无明显胰岛素抵抗,非肥胖的青少年糖尿病患者应行基因检测以筛查MODY,精准诊断并予以个体化治疗将有助于血糖水平达标及改善生活质量,并指导优化生育。展开更多
During the last 100 years in medical literature,there are only 54 reports,including the report of Pasaoglu et al(World J Gastroenterol 2008;14:2915-2916),with clinical descriptions of agenesis of the dorsal pancreas i...During the last 100 years in medical literature,there are only 54 reports,including the report of Pasaoglu et al(World J Gastroenterol 2008;14:2915-2916),with clinical descriptions of agenesis of the dorsal pancreas in humans.Agenesis of the dorsal pancreas,a rare congenital pancreatic malformation,is associated with some other medical conditions such as hyperglycemia,abdominal pain,pancreatitis and a few other diseases.In approximately 50% of reported patients with this congenital malformation,hyperglycemia was demonstrated.Evaluation of hyperglycemia and diabetes mellitus in all patients with agenesis of the dorsal pancreas including description of fasting blood glucose,oral glucose tolerance test,glycated hemoglobin and medical treatment would be a future goal.Since autosomal dominant transmission has been suggested in single families,more family studies including imaging technologies with demonstration of the pancreatic duct system are needed for evaluation of this disease.With this letter to the editor,we aim to increase available information for the better understanding of this rare disease.展开更多
Developmental anomalies of the pancreas have been reported but dorsal pancreatic agenesis is an extremely rare entity. We report an asymptomatic 62-year-old woman with complete agenesis of the dorsal pancreas. Abdomin...Developmental anomalies of the pancreas have been reported but dorsal pancreatic agenesis is an extremely rare entity. We report an asymptomatic 62-year-old woman with complete agenesis of the dorsal pancreas. Abdominal computed tomography (CT) revealed a normal pancreatic head, but pancreatic body and tail were not visualized. Magnetic resonance imaging (MRI) findings were similar to CT. At magnetic resonance cholangiopancreatography (MRCP), the major pancreatic duct was short and the dorsal pancreatic duct was not visualized. The final diagnosis was dorsal pancreatic agenesis.展开更多
文摘背侧胰腺发育不全(agenesis of the dorsal pancreas,ADP)是一种先天性胰腺发育畸形,其特征性表现为胰腺颈体尾部未发育或发育不全,起病隐匿,多数患者无临床症状,部分患者表现为腹部疼痛[1]。既往基因检测研究显示,胰腺发育不全可能与PDX1、PTF1A、GATA4、GATA6、HNF1A和HNF1B等基因突变相关[2]。
文摘报告1例青少年起病的成人型糖尿病(maturity-onset diabetes of the young,MODY)3型(MODY3)合并5型(MODY5)患者的临床特征、诊断及治疗,并复习相关文献。利用MODY(1~14型)基因外显子二代测序和Sanger测序验证MODY患者及其母亲,结合临床表型及基因检测结果,该患者诊断为MODY3合并MODY5,给予胰岛素及利格列汀治疗,观察血糖变化。临床医师应提高对MODY临床表型的认识,对于合并先天性胰腺和肾脏发育不全、高密度脂蛋白胆固醇升高,无自发酮症、胰岛素分泌缺陷,胰岛自身抗体阴性,无明显胰岛素抵抗,非肥胖的青少年糖尿病患者应行基因检测以筛查MODY,精准诊断并予以个体化治疗将有助于血糖水平达标及改善生活质量,并指导优化生育。
文摘During the last 100 years in medical literature,there are only 54 reports,including the report of Pasaoglu et al(World J Gastroenterol 2008;14:2915-2916),with clinical descriptions of agenesis of the dorsal pancreas in humans.Agenesis of the dorsal pancreas,a rare congenital pancreatic malformation,is associated with some other medical conditions such as hyperglycemia,abdominal pain,pancreatitis and a few other diseases.In approximately 50% of reported patients with this congenital malformation,hyperglycemia was demonstrated.Evaluation of hyperglycemia and diabetes mellitus in all patients with agenesis of the dorsal pancreas including description of fasting blood glucose,oral glucose tolerance test,glycated hemoglobin and medical treatment would be a future goal.Since autosomal dominant transmission has been suggested in single families,more family studies including imaging technologies with demonstration of the pancreatic duct system are needed for evaluation of this disease.With this letter to the editor,we aim to increase available information for the better understanding of this rare disease.
文摘Developmental anomalies of the pancreas have been reported but dorsal pancreatic agenesis is an extremely rare entity. We report an asymptomatic 62-year-old woman with complete agenesis of the dorsal pancreas. Abdominal computed tomography (CT) revealed a normal pancreatic head, but pancreatic body and tail were not visualized. Magnetic resonance imaging (MRI) findings were similar to CT. At magnetic resonance cholangiopancreatography (MRCP), the major pancreatic duct was short and the dorsal pancreatic duct was not visualized. The final diagnosis was dorsal pancreatic agenesis.
