PRSS3基因突变相关胰腺炎并糖尿病患者1例报告并文献复习

PRSS3 GENE MUTATION-ASSOCIATED PANCREATITIS WITH DIABETES MELLITUS:A CASE REPORT AND LITERATURE REVIEW

目的通过分析1例急性胰腺炎(acute pancreatitis,AP)并糖尿病(diabetes mellitus,DM)患者的临床资料及人胰蛋白酶原基因3(PRSS3)的突变特点,结合相关文献,探讨两种疾病间的相互关系。方法收集我院收治的1例AP并DM患者及其家系成员临床资料,完善患者及其母亲全外显子基因测序,并复习相关文献。结果患者因“恶心呕吐伴腹痛1 d”首次就诊,经检测血尿淀粉酶升高,腹部增强CT检查显示胰腺头颈部边缘略毛糙,周围见多发液体影;住院期间多次检测结果显示空腹及餐后血糖高,糖化血红蛋白高于正常值,诊断为AP、DM。患者C肽释放曲线提示餐后C肽倍增量不足,有2型DM的特点,但是胰岛储备功能不足,予以地特胰岛素16 U,睡前皮下注射,联合吡格列酮片30 mg,每日1次,盐酸二甲双胍片0.5 g,每日3次,非诺贝特胶囊0.2 g,每日1次,治疗1周,复查结果显示空腹及餐后血糖降至理想范围。基因测序结果示患者及其母亲PRSS 3均有c.284_285delAC杂合突变,可能与AP相关。结论对AP合并DM患者,应完善PRSS 3等基因检测,以指导患者精准诊疗,改善其预后。

Objective To investigate the association between acute pancreatitis(AP)and diabetes mellitus(DM)by analyzing the clinical data of one patient with AP and DM and the characteristics of mutation in the PRSS3 gene mutation with refe-rence to a literature review.Methods Clinical data were collected from a patient with AP and DM admitted to our hospital and her family members,and whole-exome sequencing was performed for the patient and her mother.Relevant articles were reviewed.Results The patient attended the hospital for the first time due to“nausea and vomiting with abdominal pain for 1 day”.Labora-tory examination showed an increase in amylase in blood and urine,and abdominal contrast-enhanced CT showed that the edge of the head and neck of the pancreas was slightly rough,with multiple liquid shadows around.Multiple examinations during hospitalization showed high levels of fasting and postprandial blood glucose,and glycosylated hemoglobin was higher than the normal value.Therefore,the patient was diagnosed with AP and DM.The C-peptide release curve of the patient showed insufficient postprandial C-peptide doubling,with the features of type 2 DM and insufficient pancreatic islet reserve function.The patient was given subcutaneous injection of insulin detemir 16 U before bedtime combined with pioglitazone tablets 30 mg once a day and metformin hydrochloride tablets 0.5 g 3 times a day,and finofibrate capsnles 0.2 g one a day for 1 week,and reexamination showed that fasting and postprandial blood glucose decreased to the ideal range.Gene sequencing revealed that both the patient and her mother had the c.284_285delAC heterozygous mutation in the PRSS 3 gene,which might be associated with AP.Conclusion Genetic testing of PRSS3 and other genes should be performed for patients with AP and DM,so as to guide precise diagnosis and treatment and improve prognosis.