[194 + 2T>C;−215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report

Rationale: Fibrocalculous pancreatic diabetes (FCPD) is a unique form of diabetes reported from tropical and subtropical regions, associated with both endocrine and exocrine disease of the pancreas, frequently misdiagnosed, resulting in delayed therapy to patients. Patient concerns: A now 41-year-old Chinese male had a 11-year history of dry mouth, polydipsia, polyuria, progressive weight loss, recurrent abdominal bloating and diarrhea. Diagnoses: He were misdiagnosed as Type 1 diabetes mellitus, due to many similar characteristic features between FCPD and T1DM.The patient received whole gene sequencing. Two mutations were identified, the pathogenic splicing mutation c.194 + 2T > C (IVS3 + 2T > C) and a Variant of Undetermined Significance c.-215G > A. Interventions: He underwent extracorporeal shock wave lithotripsy combined with the conventional eneoscopic retrograde cholangio pancreatography and received addition of multiple daily insulin injections therapy. Outcomes: He reported reduced gastrointestinal symptoms. He and his relatives’s long-term follow-up management was conducted. Lessons: Clinically, FCPD deserves more attention than it currently receives, because of its unique clinical features and management strategies, and its propensity to develop diabetes-related vascular complications and pancreatic adenocarcinoma.