一例胰腺纤维钙化性糖尿病的诊疗和基因检测分析

Diagnosis,treatment and genetic analysis of a case with fibrocalculous pancreatic diabetes

胰腺纤维钙化性糖尿病(fibrocalculous pancreatic diabetes,FCPD)是一类罕见的、胰腺内、外分泌功能同时发生障碍的特殊类型糖尿病。本文报道了1例FCPD患者的临床资料,该患者自幼年起反复出现腹痛,25岁时诊断为糖尿病,腹部CT见胰腺钙化,基因检测发现SPINK1基因有2个纯合突变(c.194+2T>C和-191-24G>A)。基因检测分析发现其父母为杂合变异,其弟弟为纯合变异,但尚未观察到FCPD的典型表现。结合该病例及国内90例FCPD患者的临床特点汇总分析,建议对体型消瘦、无酮症倾向但胰岛功能较差的分型不明确糖尿病患者,需要考虑FCPD可能性,重视胰腺影像学及基因检测,尽早进行鉴别诊断。本文提高了对FCPD的认识和管理,为该疾病后续致病机制的深入研究与药物干预靶点的筛选充实了临床资料。

Fibrocalculous pancreatic diabetes(FCPD)is a rare type of diabetes mellitus with both impaired endocrine and exocrine functions of the pancreas.In this report,we presented a case with FCPD,who had recurrent abdominal pain since early childhood and was diagnosed with diabetes mellitus at the age of 25,with pancreatic calcification on abdominal computed tomography(CT)scan.Genetic testing revealed two homozygous mutations in the SPINK1 gene(c.194+2T>C and-191-24G>A).Both the homozygous variants were shared by his unaffected sibling,and the heterozygous variants had been verified on their unaffected parents.Based on this case and 90 other reported cases in China,we retrospectively analyzed the clinical characteristics of FCPD.It is recommended that unclassified diabetic patients with a lean body type,no ketosis tendency but poor islet function should be considered for the possibility of FCPD.Pancreatic imaging and genetic testing may be beneficial for the differential diagnosis.This study improves our understanding and management of FCPD,and also enriches clinical evidence for subsequent research on pathogenic mechanisms and drug target screening.